Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders
| Autor: | Ramzi Nasir, Jonathan Picker, Mira Irons, Ronald E. Becker, Tina Lafiosca, Christopher A. Walsh, Sandra L. Friedman, Christina A. Austin, Yiping Shen, Eric M. Morrow, Cynthia M. Rooney, Elaine LeClair, Dean Sarco, Nahit Motavalli Mukaddes, Michael Neessen, Elizabeth C. Engle, Wen-Hann Tan, Michael S L Ching, Fuki M. Hisama, Bai-Lin Wu, Katherine Driscoll, Ellen Hanson, Xiaoli Chen, Leonard Rappaport, Joan M. Stoler, Shafali S. Jeste, Seung Yun Yoo, Gerard T. Berry, Rachel J. Hundley, James F. Gusella, Ting Zhang, David T. Miller, Robert Wolff |
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| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Male
NRXN1 exonic deletions Developmental Disabilities CNV Single-nucleotide polymorphism Array CGH Biology NRXN1 (neurexin-1) 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Intellectual Disability Genotype medicine array CGH Humans Heritability of autism developmental disorders Language Development Disorders Allele Autistic Disorder Child Genetics (clinical) Research Articles 030304 developmental biology Sequence Deletion Genetics 0303 health sciences Comparative Genomic Hybridization Developmental disorders medicine.disease Disease gene identification Hypotonia 3. Good health Psychiatry and Mental health Phenotype Child Development Disorders Pervasive Mutation Schizophrenia Autism Female medicine.symptom 030217 neurology & neurosurgery Comparative genomic hybridization |
| Zdroj: | Ching, MSL; Shen, Y; Tan, WH; Jeste, SS; Morrow, EM; Chen, X; et al.(2010). Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 153(4), 937-947. doi: 10.1002/ajmg.b.31063. UCLA: Retrieved from: http://www.escholarship.org/uc/item/6zj2639n American Journal of Medical Genetics |
| DOI: | 10.1002/ajmg.b.31063. |
| Popis: | Research has implicated mutations in the gene for neurexin-1 (NRXN1) in a variety of conditions including autism, schizophrenia, and nicotine dependence. To our knowledge, there have been no published reports describing the breadth of the phenotype associated with mutations in NRXN1. We present a medical record review of subjects with deletions involving exonic sequences of NRXN1. We ascertained cases from 3,540 individuals referred clinically for comparative genomic hybridization testing from March 2007 to January 2009. Twelve subjects were identified with exonic deletions. The phenotype of individuals with NRXN1 deletion is variable and includes autism spectrum disorders, mental retardation, language delays, and hypotonia. There was a statistically significant increase in NRXN1 deletion in our clinical sample compared to control populations described in the literature (P = 8.9 × 10−7). Three additional subjects with NRXN1 deletions and autism were identified through the Homozygosity Mapping Collaborative for Autism, and this deletion segregated with the phenotype. Our study indicates that deletions of NRXN1 predispose to a wide spectrum of developmental disorders. © 2010 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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