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.
Arking
Dan E
DE
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Cutler
David J
DJ
Brune
Camille W
CW
Teslovich
Tanya M
TM
West
Kristen
K
Ikeda
Morna
M
Rea
Alexis
A
Guy
Moltu
M
Lin
Shin
S
Cook
Edwin H
EH
Chakravarti
Aravinda
A
D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis
C403049:CNTNAP2 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins