Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.

ABSTRACT: Intellectual disability (ID), a neurodevelopmental disorder affecting 1-3% of the general population, is characterized by limitations in both intellectual function and adaptive skills. The high number of conditions associated with ID underlines its heterogeneous origin and reveals the difficulty of obtaining a rapid and accurate genetic diagnosis. However, the Next Generation Sequencing, and the whole exome sequencing (WES) in particular, has boosted the diagnosis rate associated with ID. In this study, WES performed on 244 trios of patients clinically diagnosed with isolated or syndromic ID and their respective unaffected parents has allowed the identification of the underlying genetic basis of ID in 64 patients, yielding a diagnosis rate of 25.2%. Our results suggest that trio-based WES

SUBMITTER: Brea-Fernandez AJ 

PROVIDER: S-EPMC9349217 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature