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Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.

Authors
  • M, Alarcón
  • Bs, Abrahams
  • Jl, Stone
  • Ja, Duvall
  • Jv, Perederiy
  • Jm, Bomar
  • J, Sebat
  • M, Wigler
  • Cl, Martin
  • Dh, Ledbetter
  • Stanley F. Nelson
  • Rm, Cantor
  • Dh, Geschwind
Type
Published Article
Journal
The American Journal of Human Genetics
Publisher
Elsevier
Volume
82
Issue
1
Pages
150–159
Identifiers
DOI: 10.1016/j.ajhg.2007.09.005
Source
Nelson Lab
License
Unknown

Abstract

Autism is a genetically complex neurodevelopmental syndrome in which language deficits are a core feature. We describe results from two complimentary approaches used to identify risk variants on chromosome 7 that likely contribute to the etiology of autism. A two-stage association study tested 2758 SNPs across a 10 Mb 7q35 language-related autism QTL in AGRE (Autism Genetic Resource Exchange) trios and found significant association with Contactin Associated Protein-Like 2 (CNTNAP2), a strong a priori candidate. Male-only containing families were identified as primarily responsible for this association signal, consistent with the strong male affection bias in ASD and other language-based disorders. Gene-expression analyses in developing human brain further identified CNTNAP2 as enriched in circuits important for language development. Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures.

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