| Geno
|
Mag
|
Summary
|
| (C;C)
|
|
higher risk of speech development delay and/or impairment
|
| (C;T)
|
|
None
|
| (T;T)
|
|
None
|
| ? | (C;C) (C;T) (T;T) | 28 |
|---|
 |
, 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)
| OMIM | 604569 |
| Desc | CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2 |
| Variant | |
| Related | also |
[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.
| GET Evidence
|
| rs2710102
|
| aa_change
|
|
| aa_change_short
|
|
| impact
|
pharmacogenetic
|
| qualified_impact
|
Insufficiently evaluated pharmacogenetic
|
| overall_frequency
|
0.640625
|
| summary
|
|
