Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less sever...

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Vydané v:	Nature genetics Ročník 53; číslo 7; s. 1006 - 1021
Hlavní autori:	Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	New York Nature Publishing Group US 01.07.2021 Nature Publishing Group
Predmet:	631/208/366/1373 692/699/375/366/1311 Abnormalities Agriculture Animal Genetics and Genomics Animals Ataxia Autism Biomedical and Life Sciences Biomedicine Cancer Research Causes of Central nervous system Child development deviations Convulsions & seizures Cytoskeletal proteins Cytoskeleton Developmental disabilities Gene Function Gene mutations Genes, Dominant Genetic aspects Genetic Association Studies - methods Genetic disorders Genetic Predisposition to Disease Genetic research Genetic Variation Genotype & phenotype Health aspects Heterozygote Human Genetics Humans Hypotonia Intellectual disabilities Magnetic resonance imaging Mice Nervous system Nervous system diseases Neurodevelopmental disorders Neurodevelopmental Disorders - diagnosis Neurodevelopmental Disorders - genetics Phenotype Phenotypes Plasma membranes Proteins Seizures Siblings Spectrin Spectrin - genetics Spectrin - metabolism Structure United States
ISSN:	1061-4036, 1546-1718, 1546-1718
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