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A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.

Autism is a childhood neuropsychiatric disorder that, despite exhibiting high heritability, has largely eluded efforts to identify specific genetic variants underlying its etiology. We performed a two-stage genetic study in which genome-wide linkage and family-based association mapping was followed up by association and replication studies in an independent sample. We identified a common polymorphism in contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, that is significantly associated with autism susceptibility. Importantly, the genetic variant displays a parent-of-origin and gender effect recapitulating the inheritance of autism.

Pubmed ID: 18179894


  • Arking DE
  • Cutler DJ
  • Brune CW
  • Teslovich TM
  • West K
  • Ikeda M
  • Rea A
  • Guy M
  • Lin S
  • Cook EH
  • Chakravarti A


American journal of human genetics

Publication Data

January 8, 2008

Associated Grants

  • Agency: NIMH NIH HHS, Id: MH00219
  • Agency: NIMH NIH HHS, Id: MH00980
  • Agency: NIMH NIH HHS, Id: MH39437
  • Agency: NIMH NIH HHS, Id: MH52708
  • Agency: NIMH NIH HHS, Id: MH55135
  • Agency: NIMH NIH HHS, Id: MH55284
  • Agency: NIMH NIH HHS, Id: MH60007
  • Agency: NIMH NIH HHS, Id: MH61009
  • Agency: NIMH NIH HHS, Id: MH64547

Mesh Terms

  • Autistic Disorder
  • Child
  • Female
  • Genetic Predisposition to Disease
  • Genome, Human
  • Humans
  • Male
  • Membrane Proteins
  • Nerve Tissue Proteins
  • Oligonucleotide Array Sequence Analysis