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rs2710102, a common SNP in the CNTNAP2 gene, was found to be significantly associated (p<0.028) with a delayed onset of speech, as measured by the age at which a child speaks their first words, in children with autism. This effect is primarily seen in males, perhaps correlated with the 4-5x overrepresentation of males with autism compared with females.[PMID 18179893]
The confirmatory Stage 2 study was performed on 304 independent parent-child trios. However, the risk allele and the degree to which speech is delayed per genotype is unclear as published and awaits clarification by the authors.[PMID 18179893]
[PMID 18987363] Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10–5) between nonsense-word repetition and nine intronic SNPs (rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117)
[PMID 21193173] A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits.
[PMID 21310003] CNTNAP2 variants affect early language development in the general population.
[PMID 21987501] Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 23123147] CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population.
[PMID 23277129] Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.