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Am J Hum Genet. 2008 Jan;82(1):7-9.
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.
Arking DE,
Cutler DJ,
Brune CW,
Teslovich TM,
West K,
Ikeda M,
Rea A,
Guy M,
Lin S,
Cook EH,
Chakravarti A.
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
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.
PMID: 18179894 [PubMed - indexed for MEDLINE]
PMCID: PMC2253968