Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

ABSTRACT: Dyslexia is a specific difficulty in learning to read that affects 5-10% of school-aged children and is strongly influenced by genetic factors. While previous studies have identified common genetic variants associated with dyslexia, the role of rare variants has only recently begun to emerge from pedigree studies and has yet to be systematically tested in larger cohorts. Here, we present a whole-exome sequencing (WES) study of 53 individuals with dyslexia, followed by an analysis in 38 cases with reading difficulties and 82 controls assessed with reading measures. Of the 22 genes that had high-impact variants filtered through stringent bioinformatic approaches in at least three dyslexia cases, five genes were validated in the follow-up analysis: CACNA1D, CACNA1G, CLDN3, CNGB1, and CP. Nota

SUBMITTER: Marianski K 

PROVIDER: S-EPMC12738642 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature