Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

Michael S.L. Ching, Yiping Shen, Wen Hann Tan, Shafali S. Jeste, Eric M. Morrow, Xiaoli Chen, Nahit M. Mukaddes, Seung Yun Yoo, Ellen Hanson, Rachel Hundley, Christina Austin, Ronald E. Becker, Gerard T. Berry, Katherine Driscoll, Elizabeth C. Engle, Sandra Friedman, James F. Gusella, Fuki M. Hisama, Mira B. Irons, Tina LafioscaElaine LeClair, David T. Miller, Michael Neessen, Jonathan D. Picker, Leonard Rappaport, Cynthia M. Rooney, Dean P. Sarco, Joan M. Stoler, Christopher A. Walsh, Robert R. Wolff, Ting Zhang, Ramzi H. Nasir, Bai Lin Wu

Research output: Contribution to journalArticlepeer-review

208 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)937-947
Number of pages11
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Volume153
Issue number4
DOIs
StatePublished - Jun 2010
Externally publishedYes

Keywords

  • Array CGH
  • CNV
  • Developmental disorders
  • NRXN1 (neurexin-1)
  • NRXN1 exonic deletions

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

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