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

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.

Pubmed ID: 18179893


  • Alarc√≥n M
  • Abrahams BS
  • Stone JL
  • Duvall JA
  • Perederiy JV
  • Bomar JM
  • Sebat J
  • Wigler M
  • Martin CL
  • Ledbetter DH
  • Nelson SF
  • Cantor RM
  • Geschwind DH


American journal of human genetics

Publication Data

January 8, 2008

Associated Grants

  • Agency: NIMH NIH HHS, Id: R01 MH076431
  • Agency: NIMH NIH HHS, Id: R01 MH64547

Mesh Terms

  • Autistic Disorder
  • Brain
  • Child
  • Chromosomes, Human, Pair 7
  • Female
  • Gene Expression
  • Genetic Predisposition to Disease
  • Humans
  • Language Development
  • Male
  • Membrane Proteins
  • Nerve Tissue Proteins
  • Polymorphism, Single Nucleotide