ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario.

ABSTRACT: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by high heritability. It is known that genetic factors contribute to ASD pathogenesis. In particular, copy number variants (CNVs) are involved in ASD susceptibility and can affect gene expression regulation. 2p11.2 microdeletions encompassing ELMOD3, CAPG and SH2D6 genes have been described in four unrelated ASD families. The present study revealed that this microdeletion is responsible for the production of a chimeric transcript generated from the fusion between ELMOD3 and SH2D6. The identified transcript showed significantly higher expression levels in subjects carrying the deletion compared to control subjects, suggesting that it is not subjected to nonsense-mediated decay and might encode for a chim

SUBMITTER: Loi E 

PROVIDER: S-EPMC6991669 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature