ArticleExperimental & molecular medicine2025
Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.
Article in Experimental & molecular medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families.Journal of molecular medicine (Berlin, Germany) · 2026Article
- A comparative survey of functional evidence use in hearing and vision loss genetics.Communications medicine · 2026Article
- A Structural Variant in the 5' Regulatory Region ofInternational archives of otorhinolaryngology · 2026Article
- Article
- Gene supplementation with precise transgene expression rescues hearing loss in a mouse model with an Mpzl2 East Asian founder variant.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Advances in pathogenesis, novel therapeutic strategies and interventions for age-related hearing loss.Frontiers in molecular neuroscience · 2026Review
- Auditory genotype-phenotype correlation of patients with variants in STRC.Scientific reports · 2025Article
- Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.NPJ genomic medicine · 2025Article
- Recent preclinical and clinical advances in gene therapy for hereditary hearing loss.Molecules and cells · 2025Review
- Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss.Scientific reports · 2025Article
- The audiological phenotype of patients with a variant in MYH9 and MYH14 genes.Scientific reports · 2025Article
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Authors and funding
7 authors.
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Abstract
Hearing loss is a clinically and genetically heterogeneous sensorineural disease that affects approximately 1 out of 1000 newborns. For the molecular diagnosis of genetic hearing loss, target panel or whole-exome sequencing (WES) have been widely used due to their cost-effectiveness and efficacy. Despite the advantages of WES, the plausible diagnoses in a substantial number of patients remain elusive due to its limited coverage. Here we utilized whole-genome sequencing (WGS) on a large cohort of individuals with hearing loss to overcome the drawbacks of WES and find the advantages of WGS. We implemented a systematic workflow to identify coding region variants, cryptic splice variants, mitochondrial variants, copy number variants, cis-regulatory variants and transposable element insertions. WGS was conducted on 140 families with hearing loss. Causative variations were identified in 37 of these families, accounting for 26% of the total. WGS possessed the capability to find genetic variations that are not identifiable using WES. The identified variants by WGS in this study encompassed aberrant splicing variants in EYA1 and CDH23, mitochondrial variants in MT-RNR1 and MT-CO1, structural variants in STRC, and Alu insertion in SLC17A8. These findings highlight the benefits of WGS. With the decreasing cost of WGS, its usage will become more prevalent, allowing more precise identification of the genetic causes of hearing loss.
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