Normal allele: AA
Significantly associated (p<0.028) with delayed speech onset, measured by the age at which a child utters his or her first words, in children with autism . This effect is primarily observed in males, possibly related to the 4-5-fold prevalence of males with autism compared to females. Associated with an increased risk of selective mutism and traits associated with social anxiety.
Polymorphism rs2710102 is related to topics like this:
Research and publications:
18987363 A functional genetic link between distinct developmental language disorders.
19456320 A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
20838614 Traits contributing to the autistic spectrum.
21165691 Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.
21310003 CNTNAP2 variants affect early language development in the general population.
22365836 What does CNTNAP2 reveal about autism spectrum disorder?
22615702 Imaging-genetics in autism spectrum disorder: advances, translational impact, and future directions.
22843504 Individual common variants exert weak effects on the risk for autism spectrum disorders.
23871450 CNTNAP2 polymorphisms and structural brain connectivity: a diffusion-tensor imaging study.
24147096 Defining the contribution of CNTNAP2 to autism susceptibility.
25895914 CNTNAP2 Is Significantly Associated With Speech Sound Disorder in the Chinese Han Population.
26322220 A comprehensive meta-analysis of common genetic variants in autism spectrum conditions.