Nikhita Dhar

Autism spectrum disorder (ASD) is a heritable yet genetically complex developmental disorder affecting many children and adults around the world with highly variable presentation across individuals. ASD is classified as a common complex disorder, meaning that multiple common and rare variants impact the etiology of this disorder. Through extensive research, rare variants have been predicted to possibly have a greater impact on the etiology of ASD than common variants. In order to better understand the genetic variance of ASD, this study sought to examine rare variants in previously identified autism-related genes KMT2E and CNTN4 and determine what other possible phenotypic associations exist with these rare variants. I  evaluated the association between rare variants in these genes with 4,529 phenotypes in the UK Biobank, using SKAT-O gene-based test results calculated and published on the Genebass browser (Karczewski et al., 2022). Curiously, no significant associations with any other phenotypes were discovered for rare variants in both KMT2E and CNTN4. The results suggest that rare variation in these genes are largely specific to autism or are closely related phenotypes not found in the UK Biobank. A deeper examination into the relationship between autism and KMT2E and CNTN4 rare variants could help expand treatment and diagnosis options for individuals with autism and improve the care that they receive.