Heterozygous Deep-Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant

ABSTRACT Variants in ABCA4 are responsible for autosomal‐recessive Stargardt disease and cone‐rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the “missing” variants in these cases, we performed multiplex ligation‐dependent...

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Published in:	Human mutation Vol. 36; no. 1; pp. 43 - 47
Main Authors:	Bax, Nathalie M., Sangermano, Riccardo, Roosing, Susanne, Thiadens, Alberta A.H.J., Hoefsloot, Lies H., van den Born, L. Ingeborgh, Phan, Milan, Klevering, B. Jeroen, Westeneng-van Haaften, Carla, Braun, Terry A., Zonneveld-Vrieling, Marijke N., de Wijs, Ilse, Mutlu, Merve, Stone, Edwin M., den Hollander, Anneke I., Klaver, Caroline C.W., Hoyng, Carel B., Cremers, Frans P.M.
Format:	Journal Article
Language:	English
Published:	United States Blackwell Publishing Ltd 01.01.2015 John Wiley & Sons, Inc
Subjects:	ABCA4 ATP-Binding Cassette Transporters - genetics deep-intronic variants Exons Eye diseases Female Genes Genetic Association Studies - methods Genetic counseling Genetic Heterogeneity Genetic Predisposition to Disease High-Throughput Nucleotide Sequencing Humans Introns Macular Degeneration - congenital Macular Degeneration - genetics Male Mutation Ophthalmology Pedigree retinal dystrophies Retinitis Pigmentosa - genetics Sequence Analysis, DNA Sequence Deletion splicing Stargardt STGD1 Stargardt mutation deep-intronic variants ABCA4 retinal dystrophies STGD1 splicing
ISSN:	1059-7794, 1098-1004, 1098-1004
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Abstract	ABSTRACT Variants in ABCA4 are responsible for autosomal‐recessive Stargardt disease and cone‐rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the “missing” variants in these cases, we performed multiplex ligation‐dependent probe amplification‐based deletion scanning of ABCA4. In addition, we sequenced the promoter region, fragments containing five deep‐intronic splice variants, and 15 deep‐intronic regions containing weak splice sites. Heterozygous deletions spanning ABCA4 exon 5 or exons 20–22 were found in two probands, heterozygous deep‐intronic variants were identified in six probands, and a deep‐intronic variant was found together with an exon 20–22 deletion in one proband. Based on ophthalmologic findings and characteristics of the identified exonic variants present in trans, the deep‐intronic variants V1 and V4 were predicted to be relatively mild and severe, respectively. These findings are important for proper genetic counseling and for the development of variant‐specific therapies. A person with Stargardt disease (STGD1) carries a deletion of exons 20‐22 in one of two ABCA4 gene copies and a deep‐intronic mutation (c.5196+1137G>A) in the other copy. Both types of mutations cannot be identified using standard Sanger sequencing of the protein coding segments of the gene and require specific analyses. Deletions and deep‐intronic variants in ABCA4 can constitute up to 20% of ABCA4 mutations.
AbstractList	Variants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the "missing" variants in these cases, we performed multiplex ligation-dependent probe amplification-based deletion scanning of ABCA4. In addition, we sequenced the promoter region, fragments containing five deep-intronic splice variants, and 15 deep-intronic regions containing weak splice sites. Heterozygous deletions spanning ABCA4 exon 5 or exons 20-22 were found in two probands, heterozygous deep-intronic variants were identified in six probands, and a deep-intronic variant was found together with an exon 20-22 deletion in one proband. Based on ophthalmologic findings and characteristics of the identified exonic variants present in trans, the deep-intronic variants V1 and V4 were predicted to be relatively mild and severe, respectively. These findings are important for proper genetic counseling and for the development of variant-specific therapies.Variants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the "missing" variants in these cases, we performed multiplex ligation-dependent probe amplification-based deletion scanning of ABCA4. In addition, we sequenced the promoter region, fragments containing five deep-intronic splice variants, and 15 deep-intronic regions containing weak splice sites. Heterozygous deletions spanning ABCA4 exon 5 or exons 20-22 were found in two probands, heterozygous deep-intronic variants were identified in six probands, and a deep-intronic variant was found together with an exon 20-22 deletion in one proband. Based on ophthalmologic findings and characteristics of the identified exonic variants present in trans, the deep-intronic variants V1 and V4 were predicted to be relatively mild and severe, respectively. These findings are important for proper genetic counseling and for the development of variant-specific therapies. Variants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the "missing" variants in these cases, we performed multiplex ligation-dependent probe amplification-based deletion scanning of ABCA4. In addition, we sequenced the promoter region, fragments containing five deep-intronic splice variants, and 15 deep-intronic regions containing weak splice sites. Heterozygous deletions spanning ABCA4 exon 5 or exons 20-22 were found in two probands, heterozygous deep-intronic variants were identified in six probands, and a deep-intronic variant was found together with an exon 20-22 deletion in one proband. Based on ophthalmologic findings and characteristics of the identified exonic variants present in trans, the deep-intronic variants V1 and V4 were predicted to be relatively mild and severe, respectively. These findings are important for proper genetic counseling and for the development of variant-specific therapies. Variants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the "missing" variants in these cases, we performed multiplex ligation-dependent probe amplification-based deletion scanning of ABCA4. In addition, we sequenced the promoter region, fragments containing five deep-intronic splice variants, and 15 deep-intronic regions containing weak splice sites. Heterozygous deletions spanning ABCA4 exon 5 or exons 20-22 were found in two probands, heterozygous deep-intronic variants were identified in six probands, and a deep-intronic variant was found together with an exon 20-22 deletion in one proband. Based on ophthalmologic findings and characteristics of the identified exonic variants present in trans, the deep-intronic variants V1 and V4 were predicted to be relatively mild and severe, respectively. These findings are important for proper genetic counseling and for the development of variant-specific therapies. A person with Stargardt disease (STGD1) carries a deletion of exons 20-22 in one of two ABCA4 gene copies and a deep-intronic mutation (c.5196+1137G>A) in the other copy. Both types of mutations cannot be identified using standard Sanger sequencing of the protein coding segments of the gene and require specific analyses. Deletions and deep-intronic variants in ABCA4 can constitute up to 20% of ABCA4 mutations. ABSTRACT Variants in ABCA4 are responsible for autosomal‐recessive Stargardt disease and cone‐rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the “missing” variants in these cases, we performed multiplex ligation‐dependent probe amplification‐based deletion scanning of ABCA4. In addition, we sequenced the promoter region, fragments containing five deep‐intronic splice variants, and 15 deep‐intronic regions containing weak splice sites. Heterozygous deletions spanning ABCA4 exon 5 or exons 20–22 were found in two probands, heterozygous deep‐intronic variants were identified in six probands, and a deep‐intronic variant was found together with an exon 20–22 deletion in one proband. Based on ophthalmologic findings and characteristics of the identified exonic variants present in trans, the deep‐intronic variants V1 and V4 were predicted to be relatively mild and severe, respectively. These findings are important for proper genetic counseling and for the development of variant‐specific therapies. A person with Stargardt disease (STGD1) carries a deletion of exons 20‐22 in one of two ABCA4 gene copies and a deep‐intronic mutation (c.5196+1137G>A) in the other copy. Both types of mutations cannot be identified using standard Sanger sequencing of the protein coding segments of the gene and require specific analyses. Deletions and deep‐intronic variants in ABCA4 can constitute up to 20% of ABCA4 mutations.
Author	Sangermano, Riccardo Zonneveld-Vrieling, Marijke N. de Wijs, Ilse Klaver, Caroline C.W. Roosing, Susanne Stone, Edwin M. Bax, Nathalie M. Hoefsloot, Lies H. Thiadens, Alberta A.H.J. Klevering, B. Jeroen van den Born, L. Ingeborgh Braun, Terry A. Cremers, Frans P.M. den Hollander, Anneke I. Hoyng, Carel B. Westeneng-van Haaften, Carla Phan, Milan Mutlu, Merve
Author_xml	– sequence: 1 givenname: Nathalie M. surname: Bax fullname: Bax, Nathalie M. organization: Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands – sequence: 2 givenname: Riccardo surname: Sangermano fullname: Sangermano, Riccardo organization: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands – sequence: 3 givenname: Susanne surname: Roosing fullname: Roosing, Susanne organization: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands – sequence: 4 givenname: Alberta A.H.J. surname: Thiadens fullname: Thiadens, Alberta A.H.J. organization: Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands – sequence: 5 givenname: Lies H. surname: Hoefsloot fullname: Hoefsloot, Lies H. organization: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands – sequence: 6 givenname: L. Ingeborgh surname: van den Born fullname: van den Born, L. Ingeborgh organization: The Rotterdam Eye Hospital, Rotterdam, The Netherlands – sequence: 7 givenname: Milan surname: Phan fullname: Phan, Milan organization: Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands – sequence: 8 givenname: B. Jeroen surname: Klevering fullname: Klevering, B. Jeroen organization: Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands – sequence: 9 givenname: Carla surname: Westeneng-van Haaften fullname: Westeneng-van Haaften, Carla organization: Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands – sequence: 10 givenname: Terry A. surname: Braun fullname: Braun, Terry A. organization: Department of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medicine, Iowa City, Iowa – sequence: 11 givenname: Marijke N. surname: Zonneveld-Vrieling fullname: Zonneveld-Vrieling, Marijke N. organization: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands – sequence: 12 givenname: Ilse surname: de Wijs fullname: de Wijs, Ilse organization: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands – sequence: 13 givenname: Merve surname: Mutlu fullname: Mutlu, Merve organization: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands – sequence: 14 givenname: Edwin M. surname: Stone fullname: Stone, Edwin M. organization: Department of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medicine, Iowa City, Iowa – sequence: 15 givenname: Anneke I. surname: den Hollander fullname: den Hollander, Anneke I. organization: Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands – sequence: 16 givenname: Caroline C.W. surname: Klaver fullname: Klaver, Caroline C.W. organization: Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands – sequence: 17 givenname: Carel B. surname: Hoyng fullname: Hoyng, Carel B. organization: Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands – sequence: 18 givenname: Frans P.M. surname: Cremers fullname: Cremers, Frans P.M. email: Frans.Cremers@radboudumc.nl organization: Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands
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Cites_doi	10.1038/ng0397-236 10.1167/iovs.09-4655 10.1093/hmg/ddt367 10.1016/j.ophtha.2003.06.010 10.1126/science.277.5333.1805 10.1002/humu.10263 10.1167/iovs.11-9166 10.1371/journal.pone.0079369 10.1093/hmg/ddu396 10.1002/humu.10219 10.1038/mtna.2012.3 10.1038/sj.ejhg.5200784 10.1086/302323 10.1007/s10633-008-9155-4 10.1093/hmg/7.3.355
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Keywords	Stargardt mutation deep-intronic variants ABCA4 retinal dystrophies STGD1 splicing
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References	Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, et al. 1997b. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236-246. Braun TA, Mullins RF, Wagner AH, Andorf JL, Johnston RM, Bakall BB, Deluca AP, Fishman GA, Lam BL, Weleber RG, Cideciyan AV, Jacobson SG, et al. 2013. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Hum Mol Genet 22:5136-5145. Garanto A, van Beersum SE, Peters TA, Roepman R, Cremers FP, Collin RW. 2013. Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. PLoS One 8:e79369. Collin RW, den Hollander AI, van der Velde-Visser SD, Bennicelli J, Bennett J, Cremers FP. 2012. Antisense oligonucleotide (AON)-based therapy for Leber congenital amaurosis caused by a frequent mutation in CEP290. Mol Ther Nucleic Acids 1:e14. Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, et al. 1998. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet 7:355-362. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Back M; International Society for Clinical Electrophysiology of Vision. 2009. ISCEV standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 118:69-77. Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, et al. 2002. The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Eur J Hum Genet 10:197-203. Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, et al. 2003. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat 22:395-403. Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. 2003. An ABCA4 genomic deletion in patients with Stargardt disease. Hum Mutat 21:636-644. Burke TR, Fishman GA, Zernant J, Schubert C, Tsang SH, Smith RT, Ayyagari R, Koenekoop RK, Umfress A, Ciccarelli ML, Baldi A, Iannaccone A, et al. 2012. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci 53:4458-4467. Edwards AO, Donoso LA, Ritter R3rd. 2001. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. Invest Ophthalmol Vis Sci 42:2652-2663. Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, et al. 2014. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet 23:6797-6806. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, et al. 1997a. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277:1805-1807. Klevering BJ, Maugeri A, Wagner A, Go SL, Vink C, Cremers FPM, Hoyng CB. 2004. Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa. Ophthalmology 111:546-553. Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Dahl N, Brunner HG, et al. 1999. The 2588G->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet 64:1024-1035. Poloschek CM, Bach M, Lagreze WA, Glaus E, Lemke JR, Berger W, Neidhardt J. 2010. ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Invest Ophthalmol Vis Sci 51:4253-4265. 2004; 111 2012; 1 2013; 22 1997a; 277 2002; 10 1999; 64 1998; 7 2009; 118 2013; 8 2014; 23 2012; 53 2010; 51 2003; 21 2001; 42 2003; 22 1997b; 15 Yatsenko (10.1002/humu.22717-BIB0015\|humu22717-cit-0015) 2003; 21 Collin (10.1002/humu.22717-BIB0005\|humu22717-cit-0005) 2012; 1 Marmor (10.1002/humu.22717-BIB0011\|humu22717-cit-0011) 2009; 118 Allikmets (10.1002/humu.22717-BIB0001\|humu22717-cit-0001) 1997a; 277 Burke (10.1002/humu.22717-BIB0004\|humu22717-cit-0004) 2012; 53 Garanto (10.1002/humu.22717-BIB0008\|humu22717-cit-0008) 2013; 8 Cremers (10.1002/humu.22717-BIB0006\|humu22717-cit-0006) 1998; 7 Klevering (10.1002/humu.22717-BIB0010\|humu22717-cit-0010) 2004; 111 Edwards (10.1002/humu.22717-BIB0007\|humu22717-cit-0007) 2001; 42 Maugeri (10.1002/humu.22717-BIB0013\|humu22717-cit-0013) 2002; 10 Braun (10.1002/humu.22717-BIB0003\|humu22717-cit-0003) 2013; 22 Jaakson (10.1002/humu.22717-BIB0009\|humu22717-cit-0009) 2003; 22 Maugeri (10.1002/humu.22717-BIB0012\|humu22717-cit-0012) 1999; 64 Poloschek (10.1002/humu.22717-BIB0014\|humu22717-cit-0014) 2010; 51 Zernant (10.1002/humu.22717-BIB0016\|humu22717-cit-0016) 2014; 23 Allikmets (10.1002/humu.22717-BIB0002\|humu22717-cit-0002) 1997b; 15
References_xml	– reference: Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, et al. 2014. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet 23:6797-6806. – reference: Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, et al. 1997b. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236-246. – reference: Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, et al. 1998. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet 7:355-362. – reference: Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Back M; International Society for Clinical Electrophysiology of Vision. 2009. ISCEV standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 118:69-77. – reference: Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. 2003. An ABCA4 genomic deletion in patients with Stargardt disease. Hum Mutat 21:636-644. – reference: Burke TR, Fishman GA, Zernant J, Schubert C, Tsang SH, Smith RT, Ayyagari R, Koenekoop RK, Umfress A, Ciccarelli ML, Baldi A, Iannaccone A, et al. 2012. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci 53:4458-4467. – reference: Garanto A, van Beersum SE, Peters TA, Roepman R, Cremers FP, Collin RW. 2013. Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. PLoS One 8:e79369. – reference: Braun TA, Mullins RF, Wagner AH, Andorf JL, Johnston RM, Bakall BB, Deluca AP, Fishman GA, Lam BL, Weleber RG, Cideciyan AV, Jacobson SG, et al. 2013. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Hum Mol Genet 22:5136-5145. – reference: Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, et al. 2003. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat 22:395-403. – reference: Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, et al. 2002. The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Eur J Hum Genet 10:197-203. – reference: Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, et al. 1997a. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277:1805-1807. – reference: Edwards AO, Donoso LA, Ritter R3rd. 2001. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. Invest Ophthalmol Vis Sci 42:2652-2663. – reference: Klevering BJ, Maugeri A, Wagner A, Go SL, Vink C, Cremers FPM, Hoyng CB. 2004. Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa. Ophthalmology 111:546-553. – reference: Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Dahl N, Brunner HG, et al. 1999. The 2588G->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet 64:1024-1035. – reference: Poloschek CM, Bach M, Lagreze WA, Glaus E, Lemke JR, Berger W, Neidhardt J. 2010. ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Invest Ophthalmol Vis Sci 51:4253-4265. – reference: Collin RW, den Hollander AI, van der Velde-Visser SD, Bennicelli J, Bennett J, Cremers FP. 2012. Antisense oligonucleotide (AON)-based therapy for Leber congenital amaurosis caused by a frequent mutation in CEP290. Mol Ther Nucleic Acids 1:e14. – volume: 7 start-page: 355 year: 1998 end-page: 362 article-title: Autosomal recessive retinitis pigmentosa and cone‐rod dystrophy caused by splice site mutations in the targardt's disease gene publication-title: Hum Mol Genet – volume: 42 start-page: 2652 year: 2001 end-page: 2663 article-title: A novel gene for autosomal dominant targardt‐like macular dystrophy with homology to the 4 protein family publication-title: Invest Ophthalmol Vis Sci – volume: 53 start-page: 4458 year: 2012 end-page: 4467 article-title: Retinal phenotypes in patients homozygous for the 1961 mutation in the 4 gene publication-title: Invest Ophthalmol Vis Sci – volume: 277 start-page: 1805 year: 1997a end-page: 1807 article-title: Mutation of the targardt disease gene ( ) in age‐related macular degeneration publication-title: Science – volume: 111 start-page: 546 year: 2004 end-page: 553 article-title: Three families displaying the combination of targardt's disease with cone‐rod dystrophy or retinitis pigmentosa publication-title: Ophthalmology – volume: 51 start-page: 4253 year: 2010 end-page: 4265 article-title: 4 and 1: implications for modification of the 2‐associated macular dystrophy phenotype publication-title: Invest Ophthalmol Vis Sci – volume: 23 start-page: 6797 year: 2014 end-page: 6806 article-title: Analysis of the genomic locus in targardt disease publication-title: Hum Mol Genet – volume: 64 start-page: 1024 year: 1999 end-page: 1035 article-title: The 2588 –> mutation in the gene is a mild frequent founder mutation in the estern uropean population and allows the classification of mutations in patients with targardt disease publication-title: Am J Hum Genet – volume: 15 start-page: 236 year: 1997b end-page: 246 article-title: A photoreceptor cell‐specific ‐binding transporter gene ( ) is mutated in recessive targardt macular dystrophy publication-title: Nat Genet – volume: 21 start-page: 636 year: 2003 end-page: 644 article-title: An 4 genomic deletion in patients with targardt disease publication-title: Hum Mutat – volume: 22 start-page: 5136 year: 2013 end-page: 5145 article-title: Non‐exomic and synonymous variants in 4 are an important cause of targardt disease publication-title: Hum Mol Genet – volume: 118 start-page: 69 year: 2009 end-page: 77 article-title: standard for full‐field clinical electroretinography (2008 update) publication-title: Doc Ophthalmol – volume: 8 start-page: e79369 year: 2013 article-title: Unexpected 290 m splicing in a humanized knock‐in mouse model for eber congenital amaurosis publication-title: PLoS One – volume: 1 start-page: e14 year: 2012 article-title: Antisense oligonucleotide ( )‐based therapy for eber congenital amaurosis caused by a frequent mutation in 290 publication-title: Mol Ther Nucleic Acids – volume: 22 start-page: 395 year: 2003 end-page: 403 article-title: Genotyping microarray (gene chip) for the ( 4) gene publication-title: Hum Mutat – volume: 10 start-page: 197 year: 2002 end-page: 203 article-title: The 4 2588 > targardt mutation: single origin and increasing frequency from outh‐ est to orth‐ ast urope publication-title: Eur J Hum Genet – volume: 15 start-page: 236 year: 1997b ident: 10.1002/humu.22717-BIB0002\|humu22717-cit-0002 article-title: A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy publication-title: Nat Genet doi: 10.1038/ng0397-236 – volume: 51 start-page: 4253 year: 2010 ident: 10.1002/humu.22717-BIB0014\|humu22717-cit-0014 article-title: ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype publication-title: Invest Ophthalmol Vis Sci doi: 10.1167/iovs.09-4655 – volume: 22 start-page: 5136 year: 2013 ident: 10.1002/humu.22717-BIB0003\|humu22717-cit-0003 article-title: Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease publication-title: Hum Mol Genet doi: 10.1093/hmg/ddt367 – volume: 111 start-page: 546 year: 2004 ident: 10.1002/humu.22717-BIB0010\|humu22717-cit-0010 article-title: Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa publication-title: Ophthalmology doi: 10.1016/j.ophtha.2003.06.010 – volume: 277 start-page: 1805 year: 1997a ident: 10.1002/humu.22717-BIB0001\|humu22717-cit-0001 article-title: Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration publication-title: Science doi: 10.1126/science.277.5333.1805 – volume: 22 start-page: 395 year: 2003 ident: 10.1002/humu.22717-BIB0009\|humu22717-cit-0009 article-title: Genotyping microarray (gene chip) for the ABCR (ABCA4) gene publication-title: Hum Mutat doi: 10.1002/humu.10263 – volume: 53 start-page: 4458 year: 2012 ident: 10.1002/humu.22717-BIB0004\|humu22717-cit-0004 article-title: Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene publication-title: Invest Ophthalmol Vis Sci doi: 10.1167/iovs.11-9166 – volume: 8 start-page: e79369 year: 2013 ident: 10.1002/humu.22717-BIB0008\|humu22717-cit-0008 article-title: Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis publication-title: PLoS One doi: 10.1371/journal.pone.0079369 – volume: 23 start-page: 6797 year: 2014 ident: 10.1002/humu.22717-BIB0016\|humu22717-cit-0016 article-title: Analysis of the ABCA4 genomic locus in Stargardt disease publication-title: Hum Mol Genet doi: 10.1093/hmg/ddu396 – volume: 21 start-page: 636 year: 2003 ident: 10.1002/humu.22717-BIB0015\|humu22717-cit-0015 article-title: An ABCA4 genomic deletion in patients with Stargardt disease publication-title: Hum Mutat doi: 10.1002/humu.10219 – volume: 1 start-page: e14 year: 2012 ident: 10.1002/humu.22717-BIB0005\|humu22717-cit-0005 article-title: Antisense oligonucleotide (AON)-based therapy for Leber congenital amaurosis caused by a frequent mutation in CEP290 publication-title: Mol Ther Nucleic Acids doi: 10.1038/mtna.2012.3 – volume: 10 start-page: 197 year: 2002 ident: 10.1002/humu.22717-BIB0013\|humu22717-cit-0013 article-title: The ABCA4 2588G>CStargardt mutation: single origin and increasing frequency from South-West to North-East Europe publication-title: Eur J Hum Genet doi: 10.1038/sj.ejhg.5200784 – volume: 64 start-page: 1024 year: 1999 ident: 10.1002/humu.22717-BIB0012\|humu22717-cit-0012 article-title: The 2588G->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease publication-title: Am J Hum Genet doi: 10.1086/302323 – volume: 118 start-page: 69 year: 2009 ident: 10.1002/humu.22717-BIB0011\|humu22717-cit-0011 article-title: ISCEV standard for full-field clinical electroretinography (2008 update) publication-title: Doc Ophthalmol doi: 10.1007/s10633-008-9155-4 – volume: 42 start-page: 2652 year: 2001 ident: 10.1002/humu.22717-BIB0007\|humu22717-cit-0007 article-title: A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family publication-title: Invest Ophthalmol Vis Sci – volume: 7 start-page: 355 year: 1998 ident: 10.1002/humu.22717-BIB0006\|humu22717-cit-0006 article-title: Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR publication-title: Hum Mol Genet doi: 10.1093/hmg/7.3.355
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Snippet	ABSTRACT Variants in ABCA4 are responsible for autosomal‐recessive Stargardt disease and cone‐rod dystrophy. Sequence analysis of ABCA4 exons previously... Variants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one...
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SubjectTerms	ABCA4 ATP-Binding Cassette Transporters - genetics deep-intronic variants Exons Eye diseases Female Genes Genetic Association Studies - methods Genetic counseling Genetic Heterogeneity Genetic Predisposition to Disease High-Throughput Nucleotide Sequencing Humans Introns Macular Degeneration - congenital Macular Degeneration - genetics Male Mutation Ophthalmology Pedigree retinal dystrophies Retinitis Pigmentosa - genetics Sequence Analysis, DNA Sequence Deletion splicing Stargardt STGD1
Title	Heterozygous Deep-Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant
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