Replicated linear association between DUF1220 copy number and severity of social impairment in autism.

摘要: Sequences encoding DUF1220 protein domains exhibit an exceptional human-specific increase in copy number and have been associated with several phenotypes related to brain size. Autism is a highly heritable heterogeneous condition characterized behaviorally by social communicative impairments, increased repetitive stereotyped behavior. Given the accelerated growth pattern observed many individuals autism, association between subtype CON1 size, we previously investigated associations autism-related symptoms. We determined that increasing severity of all three behavioral features autism. The present study sought replicate these findings independent population (N = 166). Our results demonstrate replication linear relationship impairment autism as measured Diagnostic Interview—Revised Social Score, such each additional Score 0.24 points (SE = 0.11, p = 0.036). also identified analogous trend Communicative but did not Repetitive Behavior Score. Interestingly, appear be most pronounced multiplex children. These results, representing first gene dosage primary symptom lend further support possibility same domain family implicated evolutionary expansion human may involved severity.