Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders

作者：Ching Michael S L; Shen Yiping; Tan Wen Hann; Jeste Shafali S; Morrow Eric M; Chen Xiaoli; Mukaddes Nahit M; Yoo Seung Yun; Hanson Ellen; Hundley Rachel; Austin Christina; Becker Ronald E; Berry Gerard T; Driscoll Katherine; Engle Elizabeth C; Friedman Sandra; Gusella James F; Hisama Fuki M; Irons Mira B; Lafiosca Tina; LeClair Elaine; Miller David T; Neessen Michael; Picker Jonathan D; Rappaport Leonard; Rooney Cynthia M; Sarco Dean P; Stoler Joan M

来源：American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 2010, 153B(4): 937-947.

DOI：10.1002/ajmg.b.31063

• NRXN1 (neurexin-1)
• developmental disorders
• array CGH
• NRXN1 exonic deletions
• CNV

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 x 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.

• 出版日期2010-6
• 单位首都儿科研究所; 复旦大学