• Register
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.


Leaving Community

Are you sure you want to leave this community? Leaving the community will revoke any permissions you have been granted in this community.


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