Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability - PubMed
5 hours ago
- #Genetic diagnosis
- #Intellectual disability
- #Whole-exome sequencing
- Whole-exome sequencing (WES) combined with CNV analysis achieved a 43.54% diagnostic yield in 1052 Chinese patients with intellectual disability (ID).
- SNVs accounted for 68.7% of pathogenic variants, with autosomal dominant inheritance being the most prevalent (72.67%).
- CNV analysis identified 152 structural variants, contributing to a 14.3% increase in diagnostic yield.
- Top mutated genes (DUOX2, SCN2A, SHANK3, KDM5C, DDX3X) are linked to neurodevelopmental dysfunction.
- 4.09% of patients had actionable incidental findings unrelated to ID, highlighting ethical considerations.
- WES with CNV analysis is a powerful and economical approach for ID diagnosis, surpassing traditional methods like CMA.