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

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.

Pubmed ID: 20468056


  • Ching MS
  • Shen Y
  • Tan WH
  • Jeste SS
  • Morrow EM
  • Chen X
  • Mukaddes NM
  • Yoo SY
  • Hanson E
  • Hundley R
  • Austin C
  • Becker RE
  • Berry GT
  • Driscoll K
  • Engle EC
  • Friedman S
  • Gusella JF
  • Hisama FM
  • Irons MB
  • Lafiosca T
  • LeClair E
  • Miller DT
  • Neessen M
  • Picker JD
  • Rappaport L
  • Rooney CM
  • Sarco DP
  • Stoler JM
  • Walsh CA
  • Wolff RR
  • Zhang T
  • Nasir RH
  • Wu BL
  • Children's Hospital Boston Genotype Phenotype Study Group


American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Publication Data

June 5, 2010

Associated Grants

  • Agency: NIMH NIH HHS, Id: 1R01MH083565
  • Agency: NIMH NIH HHS, Id: 5K23MH080954-02
  • Agency: Autism Speaks, Id: AS2042
  • Agency: NIMH NIH HHS, Id: K23 MH080954
  • Agency: NIMH NIH HHS, Id: K23 MH080954-02
  • Agency: NIMH NIH HHS, Id: R01 MH083565
  • Agency: NIMH NIH HHS, Id: R01 MH083565-01
  • Agency: Howard Hughes Medical Institute, Id:

Mesh Terms

  • Autistic Disorder
  • Child
  • Child Development Disorders, Pervasive
  • Comparative Genomic Hybridization
  • Developmental Disabilities
  • Female
  • Humans
  • Intellectual Disability
  • Language Development Disorders
  • Male
  • Mutation
  • Phenotype
  • Schizophrenia
  • Sequence Deletion