Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes.

[22q11.2 deletion syndrome]

Velocardiofacial (VCFS ; 22 q 11 .2 deletion ) syndrome is a genetic disorder that results from a hemizygous deletion of the q 11 .2 region on chromosome 22 , and is associated with greatly increased risk for psychiatric disorders , including autism spectrum disorder (ASD ) and schizophrenia . There is emerging evidence for the involvement of catechol-O-methyltransferase (COMT ) and proline dehydrogenase (oxidase ) 1 (PRODH ) in the psychiatric phenotype of individuals with VCFS . Here , we tested the hypothesis that PRODH and COMT are associated with ASD in youths with VCFS . We found that individuals with VCFS and the low -activity alleles of both PRODH and COMT (rs 48 1975 6 A and rs 4680 A ) were more likely to present with ASD as compared with individuals with VCFS and the high -activity alleles of these genes [P <0 .05 ; odds ratio =6 .0 (95 % confidence interval =1 .27 -28 .26 ; N =87 )]. Our results suggest that PRODH and COMT may interact to contribute to the ASD phenotype in individuals with VCFS .

Diseases
Validation

Diseases presenting "asd in youths with vcfs" symptom

22q11.2 deletion syndrome

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