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Article

Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.

Journal of molecular medicine (Berlin, Germany) - 1 Mar 2026

Pan Xin, Qian Guanhua, Liu Li, Zhang Xu, Yang Yang, Zhang Qingyun, Tang Xianglan, Yang Nanyan, Dong Lijie, Yao Hong, Dong Xiaojing, Tan Bo

Abstract excerpt

Intellectual disability (ID) is a genetically heterogeneous neurodevelopmental disorder, with etiological diagnosis remaining challenging due to clinical phenotypes and genetic diversity. To investigate the diagnostic value of whole exome sequencing (WES) combined with copy number variation (CNV) analysis in unexplained ID through a large cohort analysis, and to analyze the genetic etiology of intellectual...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41764152
DOI: 10.1007/s00109-026-02652-2

Genes

KDM5C
SCN2A
DDX3X
DUOX2

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