The landscape of gene mutations in a cohort of 3353 Han Chinese children with nonsyndromic hearing loss - PubMed
4 hours ago
- #Han Chinese
- #gene mutations
- #hearing loss
- Study focused on gene mutations in 3353 Han Chinese children with nonsyndromic hearing loss.
- Employed SNPscan, targeted panel sequencing (TPS), and whole-exome sequencing (WES) for mutation analysis.
- Achieved a diagnostic yield of 48.3%, identifying 87 previously unreported variants across 24 genes.
- Discovered a de novo FOXI1 mutation linked to Mondini malformation and enlarged vestibular aqueduct.
- Identified NEU4 as a candidate gene for hearing loss, affecting neuraminidase activity and axonal development.
- Findings contribute to the genetic spectrum of hearing loss and support precision therapies and early surveillance.
- Funded by multiple national and provincial research programs in China.