From SNPedia
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)
| ? | (C;C) (C;T) (T;T) |
|---|
 |
Related to CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2
according to
omim 604569. See
also
| PharmGKB | PA162168113 |
| Name | |
| Annotation | This variant in CNTNAP2 is associated with delay of speech in autism spectrum disorder samples and appeared to be most pronounced in males. |
| Gene | CNTNAP2 |
| Featue | |
| Evidence | PubMed ID:18179893 |
| Drugs | |
| Diseases | Autistic Disorder |
| Curation Level | Curated |
