Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.

ABSTRACT:

Background

Intellectual disability (ID) represents a neurodevelopmental disorder, which is characterized by marked defects in the intellectual function and adaptive behavior, with an onset during the developmental period. ID is mainly caused by genetic factors, and it is extremely genetically heterogeneous. This study aims to identify the genetic cause of ID using trio-WES analysis.

Methods

We recruited four pediatric patients with unexplained ID from non-consanguineous families, who presented at the Department of Pediatrics, Guizhou Provincial People's Hospital. Whole-exome sequencing (WES) and Sanger sequencing validation were performed in the patients and their unaffected parents. Furthermore, conservative analysis and protein structural and functional prediction were per

SUBMITTER: Zhang W 

PROVIDER: S-EPMC9459325 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature