Identification of novel SHANK2 variants in two Chinese families via exome and RNA sequencing.

ABSTRACT:

Background

SHANK2 encodes a postsynaptic scaffolding protein involved in synapse formation, stabilization and homeostasis. Variations or microdeletions in the SHANK2 gene have been linked to a variety of neurodevelopmental disorders, including autism spectrum disorders (ASD) and mild to moderate intellectual disability (ID) in human. However, the number of reported cases with SHANK2 defects remains limited, with only 14 unrelated patients documented worldwide.

Methods

In this study, we investigated four patients from three families with ID. Whole-exome sequencing (WES) was performed to explore the genetic causes, while Sanger sequencing was used to confirm the identified variants. Furthermore, RNA sequencing and functional enrichment analysis were perfor

SUBMITTER: Wu Y 

PROVIDER: S-EPMC10704150 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature