Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Gene linked to brain malformation The identification of genetic loci linked to abnormal cortical development is complicated by genetic heterogeneity, small family sizes and diagnostic classifications that do not reflect molecular pathogenesis. These obstacles have been overcome in a study using whol...
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| Published in: | Nature (London) Vol. 467; no. 7312; pp. 207 - 210 |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
London
Nature Publishing Group UK
09.09.2010
Nature Publishing Group |
| Subjects: | |
| ISSN: | 0028-0836, 1476-4687, 1476-4687 |
| Online Access: | Get full text |
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| Abstract | Gene linked to brain malformation
The identification of genetic loci linked to abnormal cortical development is complicated by genetic heterogeneity, small family sizes and diagnostic classifications that do not reflect molecular pathogenesis. These obstacles have been overcome in a study using whole-exome sequencing. Recessive mutations in the
WD repeat domain 62
(
WDR62
) gene are shown to cause a wide spectrum of seemingly disparate brain abnormalities, including microcephaly, pachygyria and, in one instance, cerebellar hypoplasia. Unlike other known microcephaly genes,
WDR62
does not associate with centrosomes; it is predominantly nuclear in localization and is expressed transiently in the neocortex during embryonic neurogenesis.
Mapping disease loci that underlie putative Mendelian forms of malformations of cortical development is complicated by genetic heterogeneity, small family sizes and diagnostic classifications that may not reflect molecular pathogenesis. These authors use whole-exome sequencing to identify recessive mutations in
WDR62
as the cause of a wide spectrum of severe cerebral cortical malformations.
WDR62
's nuclear localization to germinal neuroepithelia indicates that cortical malformations can be caused by events during progenitor proliferation and neurogenesis.
The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers
1
,
2
. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development
3
,
4
,
5
,
6
. Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in
WD repeat domain 62
(
WDR62
) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in
WDR62
had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of
WDR62
in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes,
WDR62
does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging. |
|---|---|
| AbstractList | The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers (1,2). An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development (3-6). Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62)as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in WDR62 had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging. The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development. Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in WDR62 had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging. The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development. Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in WDR62 had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging.The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development. Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in WDR62 had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging. Gene linked to brain malformation The identification of genetic loci linked to abnormal cortical development is complicated by genetic heterogeneity, small family sizes and diagnostic classifications that do not reflect molecular pathogenesis. These obstacles have been overcome in a study using whole-exome sequencing. Recessive mutations in the WD repeat domain 62 ( WDR62 ) gene are shown to cause a wide spectrum of seemingly disparate brain abnormalities, including microcephaly, pachygyria and, in one instance, cerebellar hypoplasia. Unlike other known microcephaly genes, WDR62 does not associate with centrosomes; it is predominantly nuclear in localization and is expressed transiently in the neocortex during embryonic neurogenesis. Mapping disease loci that underlie putative Mendelian forms of malformations of cortical development is complicated by genetic heterogeneity, small family sizes and diagnostic classifications that may not reflect molecular pathogenesis. These authors use whole-exome sequencing to identify recessive mutations in WDR62 as the cause of a wide spectrum of severe cerebral cortical malformations. WDR62 's nuclear localization to germinal neuroepithelia indicates that cortical malformations can be caused by events during progenitor proliferation and neurogenesis. The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers 1 , 2 . An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development 3 , 4 , 5 , 6 . Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 ( WDR62 ) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in WDR62 had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging. The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers1,2. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development3-6. Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in WDR62 had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging. [PUBLICATION ABSTRACT] The development of the human cerebral cortex is an orchestrated process involving the birth of neural progenitors in the peri-ventricular germinal zones, cell proliferation characterized by both symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in 6 highly ordered, functionally-specialized layers1,2. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development (MCD)3-6. Mapping of disease loci in putative Mendelian forms of MCD has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WDR62 as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with WDR62 mutations had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mouse and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. WDR62 expression in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the utility of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging. |
| Audience | Academic |
| Author | Zhu, Ying Bronen, Richard A. Choi, Murim Mane, Shrikant Kwan, Kenneth Y. Koçer, Naci Lifton, Richard P. Johnson, Michele H. Öztürk, Ali Kemal Bakırcıoğlu, Mehmet Barak, Tanyeri Pamir, Mehmet Necmettin Günel, Murat Yasuno, Katsuhito Yılmaz, Sanem Kaymakçalan, Hande Per, Hüseyin Özmen, Meral Dinçer, Alp Šestan, Nenad State, Matthew W. Sanders, Stephan Tüysüz, Beyhan Tatlı, Burak Ho, Winson Bilgüvar, Kaya Louvi, Angeliki Yalnızoğlu, Dilek Gökben, Sarenur Topçu, Meral Kumandaş, Sefer Çağlayan, Ahmet Okay Yalçınkaya, Cengiz |
| AuthorAffiliation | 8 Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey 13 Department of Radiology, School of Medicine, Acibadem University, Istanbul, Turkey 15 Department of Otolaryngology, Yale University School of Medicine, New Haven CT, 06510, USA 17 Division of Neurology, Department of Pediatrics, Erciyes University School of Medicine, Kayseri, Turkey 7 Division of Genetics, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey 12 Child Study Center, Yale University School of Medicine, New Haven CT, 06510, USA 2 Department of Neurobiology, Program on Neurogenetics, Yale University School of Medicine, New Haven CT, 06510, USA 1 Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven CT, 06510, USA 16 Department of Radiology, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey 9 Division of Neurology, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Tu |
| AuthorAffiliation_xml | – name: 6 Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine, 06100 Sihhiye, Ankara, Turkey – name: 14 Department of Radiology, Yale University School of Medicine, New Haven CT, 06510, USA – name: 9 Division of Neurology, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey – name: 11 Department of Psychiatry, Yale University School of Medicine, New Haven CT, 06510, USA – name: 21 Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT, 06510, USA – name: 13 Department of Radiology, School of Medicine, Acibadem University, Istanbul, Turkey – name: 18 Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT 06510, USA – name: 5 Division of Neurology, Department of Pediatrics, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey – name: 12 Child Study Center, Yale University School of Medicine, New Haven CT, 06510, USA – name: 4 Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, 06510, USA – name: 7 Division of Genetics, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey – name: 16 Department of Radiology, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey – name: 8 Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey – name: 10 Faculty of Arts and Sciences, Bahcesehir University, Istanbul, Turkey – name: 2 Department of Neurobiology, Program on Neurogenetics, Yale University School of Medicine, New Haven CT, 06510, USA – name: 3 Department of Genetics, Program on Neurogenetics, Yale University School of Medicine, New Haven CT, 06510, USA – name: 15 Department of Otolaryngology, Yale University School of Medicine, New Haven CT, 06510, USA – name: 20 Division of Child Neurology, Department of Neurology, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey – name: 17 Division of Neurology, Department of Pediatrics, Erciyes University School of Medicine, Kayseri, Turkey – name: 19 Department of Neurosurgery, Acibadem University School of Medicine, Istanbul, Turkey – name: 1 Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven CT, 06510, USA |
| Author_xml | – sequence: 1 givenname: Kaya surname: Bilgüvar fullname: Bilgüvar, Kaya organization: Department of Neurosurgery, Yale University School of Medicine, Department of Neurobiology, Yale University School of Medicine, Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine – sequence: 2 givenname: Ali Kemal surname: Öztürk fullname: Öztürk, Ali Kemal organization: Department of Neurosurgery, Yale University School of Medicine, Department of Neurobiology, Yale University School of Medicine, Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine – sequence: 3 givenname: Angeliki surname: Louvi fullname: Louvi, Angeliki organization: Department of Neurosurgery, Yale University School of Medicine, Department of Neurobiology, Yale University School of Medicine, Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine – sequence: 4 givenname: Kenneth Y. surname: Kwan fullname: Kwan, Kenneth Y. organization: Department of Neurobiology, Yale University School of Medicine, Kavli Institute for Neuroscience, Yale University School of Medicine – sequence: 5 givenname: Murim surname: Choi fullname: Choi, Murim organization: Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine – sequence: 6 givenname: Burak surname: Tatlı fullname: Tatlı, Burak organization: Division of Neurology, Department of Pediatrics, Istanbul University Istanbul Medical Faculty – sequence: 7 givenname: Dilek surname: Yalnızoğlu fullname: Yalnızoğlu, Dilek organization: Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine – sequence: 8 givenname: Beyhan surname: Tüysüz fullname: Tüysüz, Beyhan organization: Division of Genetics, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine – sequence: 9 givenname: Ahmet Okay surname: Çağlayan fullname: Çağlayan, Ahmet Okay organization: Department of Medical Genetics, Kayseri Education and Research Hospital – sequence: 10 givenname: Sarenur surname: Gökben fullname: Gökben, Sarenur organization: Division of Neurology, Department of Pediatrics, Ege University Faculty of Medicine – sequence: 11 givenname: Hande surname: Kaymakçalan fullname: Kaymakçalan, Hande organization: Faculty of Arts and Sciences, Bahcesehir University – sequence: 12 givenname: Tanyeri surname: Barak fullname: Barak, Tanyeri organization: Department of Neurosurgery, Yale University School of Medicine, Department of Neurobiology, Yale University School of Medicine, Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine – sequence: 13 givenname: Mehmet surname: Bakırcıoğlu fullname: Bakırcıoğlu, Mehmet organization: Department of Neurosurgery, Yale University School of Medicine, Department of Neurobiology, Yale University School of Medicine, Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine – sequence: 14 givenname: Katsuhito surname: Yasuno fullname: Yasuno, Katsuhito organization: Department of Neurosurgery, Yale University School of Medicine, Department of Neurobiology, Yale University School of Medicine, Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine – sequence: 15 givenname: Winson surname: Ho fullname: Ho, Winson organization: Department of Neurosurgery, Yale University School of Medicine, Department of Neurobiology, Yale University School of Medicine, Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine – sequence: 16 givenname: Stephan surname: Sanders fullname: Sanders, Stephan organization: Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine, Department of Psychiatry, Yale University School of Medicine, Child Study Center, Yale University School of Medicine – sequence: 17 givenname: Ying surname: Zhu fullname: Zhu, Ying organization: Department of Neurobiology, Yale University School of Medicine, Kavli Institute for Neuroscience, Yale University School of Medicine – sequence: 18 givenname: Sanem surname: Yılmaz fullname: Yılmaz, Sanem organization: Division of Neurology, Department of Pediatrics, Ege University Faculty of Medicine – sequence: 19 givenname: Alp surname: Dinçer fullname: Dinçer, Alp organization: Department of Radiology, Acibadem University School of Medicine – sequence: 20 givenname: Michele H. surname: Johnson fullname: Johnson, Michele H. organization: Department of Neurosurgery, Yale University School of Medicine, Department of Radiology, Yale University School of Medicine, Department of Otolaryngology, Yale University School of Medicine – sequence: 21 givenname: Richard A. surname: Bronen fullname: Bronen, Richard A. organization: Department of Neurosurgery, Yale University School of Medicine, Department of Radiology, Yale University School of Medicine – sequence: 22 givenname: Naci surname: Koçer fullname: Koçer, Naci organization: Department of Radiology, Istanbul University Cerrahpasa Faculty of Medicine – sequence: 23 givenname: Hüseyin surname: Per fullname: Per, Hüseyin organization: Division of Neurology, Department of Pediatrics, Erciyes University School of Medicine – sequence: 24 givenname: Shrikant surname: Mane fullname: Mane, Shrikant organization: Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine, Yale Center for Genome Analysis, Yale University School of Medicine – sequence: 25 givenname: Mehmet Necmettin surname: Pamir fullname: Pamir, Mehmet Necmettin organization: Department of Neurosurgery, Acibadem University School of Medicine – sequence: 26 givenname: Cengiz surname: Yalçınkaya fullname: Yalçınkaya, Cengiz organization: Division of Child Neurology, Department of Neurology, Istanbul University Cerrahpasa Faculty of Medicine – sequence: 27 givenname: Sefer surname: Kumandaş fullname: Kumandaş, Sefer organization: Division of Neurology, Department of Pediatrics, Erciyes University School of Medicine – sequence: 28 givenname: Meral surname: Topçu fullname: Topçu, Meral organization: Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine – sequence: 29 givenname: Meral surname: Özmen fullname: Özmen, Meral organization: Division of Neurology, Department of Pediatrics, Istanbul University Istanbul Medical Faculty – sequence: 30 givenname: Nenad surname: Šestan fullname: Šestan, Nenad organization: Department of Neurobiology, Yale University School of Medicine, Kavli Institute for Neuroscience, Yale University School of Medicine – sequence: 31 givenname: Richard P. surname: Lifton fullname: Lifton, Richard P. email: richard.lifton@yale.edu organization: Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine, Howard Hughes Medical Institute, Yale University School of Medicine – sequence: 32 givenname: Matthew W. surname: State fullname: State, Matthew W. email: matthew.state@yale.edu organization: Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine, Department of Psychiatry, Yale University School of Medicine, Child Study Center, Yale University School of Medicine – sequence: 33 givenname: Murat surname: Günel fullname: Günel, Murat email: murat.gunel@yale.edu organization: Department of Neurosurgery, Yale University School of Medicine, Department of Neurobiology, Yale University School of Medicine, Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/20729831$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1038/nprot.2008.211 10.1002/ajmg.1569 10.1091/mbc.e09-06-0512 10.1111/j.0013-9580.2005.461010.x 10.1086/519795 10.1073/pnas.0806791105 10.1101/gr.078212.108 10.1016/j.tig.2009.09.011 10.1093/bioinformatics/btp352 10.1038/nrn2719 10.1016/j.tins.2007.12.004 10.1073/pnas.0910672106 10.1002/pmic.200700724 10.1038/ng.499 10.1038/ng1539 10.1016/j.ajhg.2009.01.017 10.1093/bioinformatics/btp324 10.1038/nrn2252 10.1097/00019052-200104000-00003 10.1212/01.wnl.0000183747.05269.2d 10.1002/cne.21919 10.1212/WNL.57.12.2168 10.1038/nature08250 10.1126/science.1116502 10.1038/sj.ejhg.5200385 10.1093/nar/gng015 |
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| Copyright | Springer Nature Limited 2010 COPYRIGHT 2010 Nature Publishing Group Copyright Nature Publishing Group Sep 9, 2010 |
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| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 These authors contributed equally to the study Author contributions M.W.S., R.P.L. and M.G. designed the study and K.B., A.L., N.S., R.P.L., and M.G. designed the experiments. K.B., A.K.O., A.L., K.Y.K., T.B., M.B., S.S., W.H., and S.M. performed the experiments. B.T., D.Y., B.T., A.O.C., S.G., H.K., S.Y., H.P., C.Y., S.K., M.T. and M.O. identified, consented and recruited the study subjects and provided clinical information. A.D., M.H.J., R.A.B., N.K. and M.N.P. performed and evaluated magnetic resonance imaging. M.C. and R.P.L. developed the bioinformatics scripts for data analysis. K.B., A.K.O., K.Y., A.L. and M.G. analyzed the genetics data. A.L., K.Y.K, Y.Z., N.S. and M.G. analyzed the expression data. K.B., A.K.O, A.L., R.P.L., M.W.S., and M.G. wrote the paper. |
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| References | Guerrini (CR4) 2005; 46 Mochida, Walsh (CR6) 2001; 14 Irizarry (CR22) 2003; 31 Huang da, Sherman, Lempicki (CR23) 2009; 4 Rakic (CR2) 2009; 10 Hartl (CR18) 2008; 8 Bond (CR14) 2005; 37 Bystron, Blakemore, Rakic (CR1) 2008; 9 Guerrini, Dobyns, Barkovich (CR3) 2008; 31 Choi (CR9) 2009; 106 Wasserman (CR13) 2010; 21 Thornton, Woods (CR16) 2009; 25 Kumar, Girimaji, Duvvari, Blanton (CR15) 2009; 84 Li, Ruan, Durbin (CR19) 2008; 18 Li (CR21) 2009; 25 Li, Durbin (CR20) 2009; 25 Kwan (CR26) 2008; 105 Roberts (CR17) 1999; 7 Ng (CR11) 2009; 461 Ng (CR10) 2010; 42 Guerrini, Carrozzo (CR5) 2001; 106 Barkovich, Kuzniecky, Jackson, Guerrini, Dobyns (CR8) 2005; 65 Stillman (CR24) 2009; 513 Purcell (CR12) 2007; 81 Abelson (CR25) 2005; 310 Barkovich, Kuzniecky, Jackson, Guerrini, Dobyns (CR7) 2001; 57 H Li (BFnature09327_CR21) 2009; 25 W Huang da (BFnature09327_CR23) 2009; 4 S Purcell (BFnature09327_CR12) 2007; 81 I Bystron (BFnature09327_CR1) 2008; 9 J Bond (BFnature09327_CR14) 2005; 37 KY Kwan (BFnature09327_CR26) 2008; 105 R Guerrini (BFnature09327_CR3) 2008; 31 SB Ng (BFnature09327_CR10) 2010; 42 SB Ng (BFnature09327_CR11) 2009; 461 RA Irizarry (BFnature09327_CR22) 2003; 31 P Rakic (BFnature09327_CR2) 2009; 10 AA Stillman (BFnature09327_CR24) 2009; 513 R Guerrini (BFnature09327_CR4) 2005; 46 A Kumar (BFnature09327_CR15) 2009; 84 H Li (BFnature09327_CR19) 2008; 18 GK Thornton (BFnature09327_CR16) 2009; 25 T Wasserman (BFnature09327_CR13) 2010; 21 H Li (BFnature09327_CR20) 2009; 25 E Roberts (BFnature09327_CR17) 1999; 7 R Guerrini (BFnature09327_CR5) 2001; 106 M Choi (BFnature09327_CR9) 2009; 106 JF Abelson (BFnature09327_CR25) 2005; 310 AJ Barkovich (BFnature09327_CR8) 2005; 65 D Hartl (BFnature09327_CR18) 2008; 8 GH Mochida (BFnature09327_CR6) 2001; 14 AJ Barkovich (BFnature09327_CR7) 2001; 57 21087231 - Clin Genet. 2011 Feb;79(2):132-3. doi: 10.1111/j.1399-0004.2010.01585.x. |
| References_xml | – volume: 4 start-page: 44 year: 2009 end-page: 57 ident: CR23 article-title: Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources publication-title: Nature Protocols doi: 10.1038/nprot.2008.211 – volume: 106 start-page: 160 year: 2001 end-page: 173 ident: CR5 article-title: Epilepsy and genetic malformations of the cerebral cortex publication-title: Am. J. Med. Genet. doi: 10.1002/ajmg.1569 – volume: 21 start-page: 117 year: 2010 end-page: 130 ident: CR13 article-title: A novel c-Jun N-terminal kinase (JNK)-binding protein WDR62 is recruited to stress granules and mediates a nonclassical JNK activation publication-title: Mol. Biol. Cell doi: 10.1091/mbc.e09-06-0512 – volume: 46 start-page: 32 year: 2005 end-page: 37 ident: CR4 article-title: Genetic malformations of the cerebral cortex and epilepsy publication-title: Epilepsia doi: 10.1111/j.0013-9580.2005.461010.x – volume: 81 start-page: 559 year: 2007 end-page: 575 ident: CR12 article-title: PLINK: a tool set for whole-genome association and population-based linkage analyses publication-title: Am. J. Hum. Genet. doi: 10.1086/519795 – volume: 105 start-page: 16021 year: 2008 end-page: 16026 ident: CR26 article-title: SOX5 postmitotically regulates migration, postmigratory differentiation, and projections of subplate and deep-layer neocortical neurons publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.0806791105 – volume: 18 start-page: 1851 year: 2008 end-page: 1858 ident: CR19 article-title: Mapping short DNA sequencing reads and calling variants using mapping quality scores publication-title: Genome Res. doi: 10.1101/gr.078212.108 – volume: 25 start-page: 501 year: 2009 end-page: 510 ident: CR16 article-title: Primary microcephaly: do all roads lead to Rome? publication-title: Trends Genet. doi: 10.1016/j.tig.2009.09.011 – volume: 25 start-page: 2078 year: 2009 end-page: 2079 ident: CR21 article-title: The Sequence Alignment/Map format and SAMtools publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp352 – volume: 10 start-page: 724 year: 2009 end-page: 735 ident: CR2 article-title: Evolution of the neocortex: a perspective from developmental biology publication-title: Nature Rev. Neurosci. doi: 10.1038/nrn2719 – volume: 31 start-page: 154 year: 2008 end-page: 162 ident: CR3 article-title: Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options publication-title: Trends Neurosci. doi: 10.1016/j.tins.2007.12.004 – volume: 106 start-page: 19096 year: 2009 end-page: 19101 ident: CR9 article-title: Genetic diagnosis by whole exome capture and massively parallel DNA sequencing publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.0910672106 – volume: 8 start-page: 1257 year: 2008 end-page: 1265 ident: CR18 article-title: Transcriptome and proteome analysis of early embryonic mouse brain development publication-title: Proteomics doi: 10.1002/pmic.200700724 – volume: 42 start-page: 30 year: 2010 end-page: 35 ident: CR10 article-title: Exome sequencing identifies the cause of a mendelian disorder publication-title: Nature Genet. doi: 10.1038/ng.499 – volume: 37 start-page: 353 year: 2005 end-page: 355 ident: CR14 article-title: A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size publication-title: Nature Genet. doi: 10.1038/ng1539 – volume: 84 start-page: 286 year: 2009 end-page: 290 ident: CR15 article-title: Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2009.01.017 – volume: 25 start-page: 1754 year: 2009 end-page: 1760 ident: CR20 article-title: Fast and accurate short read alignment with Burrows-Wheeler transform publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp324 – volume: 9 start-page: 110 year: 2008 end-page: 122 ident: CR1 article-title: Development of the human cerebral cortex: Boulder Committee revisited publication-title: Nature Rev. Neurosci. doi: 10.1038/nrn2252 – volume: 14 start-page: 151 year: 2001 end-page: 156 ident: CR6 article-title: Molecular genetics of human microcephaly publication-title: Curr. Opin. Neurol. doi: 10.1097/00019052-200104000-00003 – volume: 65 start-page: 1873 year: 2005 end-page: 1887 ident: CR8 article-title: A developmental and genetic classification for malformations of cortical development publication-title: Neurology doi: 10.1212/01.wnl.0000183747.05269.2d – volume: 513 start-page: 21 year: 2009 end-page: 37 ident: CR24 article-title: Developmentally regulated and evolutionarily conserved expression of SLITRK1 in brain circuits implicated in Tourette syndrome publication-title: J. Comp. Neurol. doi: 10.1002/cne.21919 – volume: 57 start-page: 2168 year: 2001 end-page: 2178 ident: CR7 article-title: Classification system for malformations of cortical development: update 2001 publication-title: Neurology doi: 10.1212/WNL.57.12.2168 – volume: 461 start-page: 272 year: 2009 end-page: 276 ident: CR11 article-title: Targeted capture and massively parallel sequencing of 12 human exomes publication-title: Nature doi: 10.1038/nature08250 – volume: 310 start-page: 317 year: 2005 end-page: 320 ident: CR25 article-title: Sequence variants in SLITRK1 are associated with Tourette’s syndrome publication-title: Science doi: 10.1126/science.1116502 – volume: 7 start-page: 815 year: 1999 end-page: 820 ident: CR17 article-title: The second locus for autosomal recessive primary microcephaly ( ) maps to chromosome 19q13.1–13.2 publication-title: Eur. J. Hum. Genet. doi: 10.1038/sj.ejhg.5200385 – volume: 31 start-page: e15 year: 2003 ident: CR22 article-title: Summaries of Affymetrix GeneChip probe level data publication-title: Nucleic Acids Res. doi: 10.1093/nar/gng015 – volume: 7 start-page: 815 year: 1999 ident: BFnature09327_CR17 publication-title: Eur. J. Hum. Genet. doi: 10.1038/sj.ejhg.5200385 – volume: 10 start-page: 724 year: 2009 ident: BFnature09327_CR2 publication-title: Nature Rev. Neurosci. doi: 10.1038/nrn2719 – volume: 25 start-page: 501 year: 2009 ident: BFnature09327_CR16 publication-title: Trends Genet. doi: 10.1016/j.tig.2009.09.011 – volume: 4 start-page: 44 year: 2009 ident: BFnature09327_CR23 publication-title: Nature Protocols doi: 10.1038/nprot.2008.211 – volume: 31 start-page: 154 year: 2008 ident: BFnature09327_CR3 publication-title: Trends Neurosci. doi: 10.1016/j.tins.2007.12.004 – volume: 81 start-page: 559 year: 2007 ident: BFnature09327_CR12 publication-title: Am. J. Hum. Genet. doi: 10.1086/519795 – volume: 46 start-page: 32 year: 2005 ident: BFnature09327_CR4 publication-title: Epilepsia doi: 10.1111/j.0013-9580.2005.461010.x – volume: 461 start-page: 272 year: 2009 ident: BFnature09327_CR11 publication-title: Nature doi: 10.1038/nature08250 – volume: 9 start-page: 110 year: 2008 ident: BFnature09327_CR1 publication-title: Nature Rev. Neurosci. doi: 10.1038/nrn2252 – volume: 57 start-page: 2168 year: 2001 ident: BFnature09327_CR7 publication-title: Neurology doi: 10.1212/WNL.57.12.2168 – volume: 31 start-page: e15 year: 2003 ident: BFnature09327_CR22 publication-title: Nucleic Acids Res. doi: 10.1093/nar/gng015 – volume: 8 start-page: 1257 year: 2008 ident: BFnature09327_CR18 publication-title: Proteomics doi: 10.1002/pmic.200700724 – volume: 84 start-page: 286 year: 2009 ident: BFnature09327_CR15 publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2009.01.017 – volume: 310 start-page: 317 year: 2005 ident: BFnature09327_CR25 publication-title: Science doi: 10.1126/science.1116502 – volume: 21 start-page: 117 year: 2010 ident: BFnature09327_CR13 publication-title: Mol. Biol. Cell doi: 10.1091/mbc.e09-06-0512 – volume: 14 start-page: 151 year: 2001 ident: BFnature09327_CR6 publication-title: Curr. Opin. Neurol. doi: 10.1097/00019052-200104000-00003 – volume: 65 start-page: 1873 year: 2005 ident: BFnature09327_CR8 publication-title: Neurology doi: 10.1212/01.wnl.0000183747.05269.2d – volume: 42 start-page: 30 year: 2010 ident: BFnature09327_CR10 publication-title: Nature Genet. doi: 10.1038/ng.499 – volume: 25 start-page: 1754 year: 2009 ident: BFnature09327_CR20 publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp324 – volume: 18 start-page: 1851 year: 2008 ident: BFnature09327_CR19 publication-title: Genome Res. doi: 10.1101/gr.078212.108 – volume: 513 start-page: 21 year: 2009 ident: BFnature09327_CR24 publication-title: J. Comp. Neurol. doi: 10.1002/cne.21919 – volume: 25 start-page: 2078 year: 2009 ident: BFnature09327_CR21 publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp352 – volume: 106 start-page: 160 year: 2001 ident: BFnature09327_CR5 publication-title: Am. J. Med. Genet. doi: 10.1002/ajmg.1569 – volume: 106 start-page: 19096 year: 2009 ident: BFnature09327_CR9 publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.0910672106 – volume: 105 start-page: 16021 year: 2008 ident: BFnature09327_CR26 publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.0806791105 – volume: 37 start-page: 353 year: 2005 ident: BFnature09327_CR14 publication-title: Nature Genet. doi: 10.1038/ng1539 – reference: 21087231 - Clin Genet. 2011 Feb;79(2):132-3. doi: 10.1111/j.1399-0004.2010.01585.x. |
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| Snippet | Gene linked to brain malformation
The identification of genetic loci linked to abnormal cortical development is complicated by genetic heterogeneity, small... The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones,... The development of the human cerebral cortex is an orchestrated process involving the birth of neural progenitors in the peri-ventricular germinal zones, cell... |
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| SubjectTerms | 631/208/212 631/208/2489/144 631/378/1689/2608 Abnormalities Amino acids Animals Artificial chromosomes Base Sequence Brain - abnormalities Brain - growth & development Brain - pathology Brain diseases Brain Diseases - genetics Brain Diseases - pathology Cell Cycle Proteins Cerebral cortex DNA Mutational Analysis - methods DNA sequencing Enrichment Female Genes Genes, Recessive Genetic aspects Genetics Heterogeneity Human Human subjects Humanities and Social Sciences Humans Intellectual disabilities letter Loci Male Medical imaging Mice Microcephaly - genetics Microcephaly - pathology Molecular Sequence Data multidisciplinary Mutation Mutations Nerve Tissue Proteins - genetics Nerve Tissue Proteins - metabolism Nucleotide sequencing Obstacles Pedigree Position (location) Proteins Schizencephaly Science Science (multidisciplinary) Sequencing Studies Technological change |
| Title | Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations |
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