Description
Mahmoud Koko, MBBS, Dr rer nat, will discuss findings from a meta-analysis of two large autism cohorts investigating the extent to which damaging coding variants influence a person’s chances of having an autism diagnosis, and whether this influence varies by sex.
Overview of Presentation:
- There are notable sex differences in autism prevalence. This work asks whether autosomal rare variants contribute to this disparity.
- We found that the effects of rare damaging variants on the chances of having an autism diagnosis were similar between sexes.
- These variants, however, were not sufficient on their own to reach the diagnostic threshold for autism.
- When disrupted, autism-linked genes were more likely to predispose to neurodevelopmental disorders in general than autism specifically.
