Identification of a novel <i>AGO2</i> variant causing LESKRES in a Chinese family with intellectual disability.

ABSTRACT:

Background

Lessel-Kreienkamp syndrome (LESKRES, MIM #619149), an autosomal dominant genetic disorder caused by variants in AGO2 (MIM*606229), primarily leads to neurodevelopmental symptoms.

Objective

This study aims to investigate the genetic etiology of a family with intellectual disability.

Methods

Whole-exome sequencing (WES) was used to initially identify the pathogenic variants responsible for the intellectual disability in the family, and Sanger sequencing was employed for confirmation. Complete family information was collected, and Sanger sequencing was performed to confirm the co-segregation of the variant with the intellectual disability, thereby determining the pathogenicity of the novel variant. The pathogenicity of the novel variant was evaluated us

SUBMITTER: Yang S 

PROVIDER: S-EPMC12198229 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature