ArticleHuman genetics2022
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.
Article in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 22 citations in OpenAlex.
- 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
- Auditory genotype-phenotype correlation of patients with variants in STRC.Scientific reports · 2025Article
- Antisense oligonucleotide therapy mitigates autosomal dominant progressive hearing loss in a murine model of human DFNA2.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Recent preclinical and clinical advances in gene therapy for hereditary hearing loss.Molecules and cells · 2025Review
- The Effect of a Third In-Ear Microphone on User Satisfaction, Speech Intelligibility, and the Real-Ear Gain of Hearing Aids at a Conversational Level in Patients with Moderate Hearing Loss.Journal of clinical medicine · 2025Article
- The audiological phenotype of patients with a variant in MYH9 and MYH14 genes.Scientific reports · 2025Article
- Biallelic variants of SEMA3F are associated with nonsyndromic hearing loss.Molecules and cells · 2025Article
- Secretion of cochlin-tomoprotein (LCCL) in the middle ear following acute tympanic injury: implications for perilymph fistula diagnosis.Frontiers in neurology · 2025Article
- Natural History of Auditory Function in Patients with Alport Syndrome: A Case Series Study.Journal of clinical medicine · 2024Article
- MYH1 deficiency disrupts outer hair cell electromotility, resulting in hearing loss.Experimental & molecular medicine · 2024Article
- Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants ofJournal of clinical medicine · 2024Article
- Article
- Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.Journal of clinical medicine · 2024Article
- Genetic Characteristics and Audiological Performance After Cochlear Implantation in Patients With Incomplete Partition Type III.Clinical and experimental otorhinolaryngology · 2023Article
- Article
- Searching for the Molecular Basis of Partial Deafness.International journal of molecular sciences · 2022Article
- Clinical Heterogeneity Associated withBiomedicines · 2022Article
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Authors and funding
16 authors at 1 institution in 1 country.
Funding
Abstract
Ski-slope hearing loss (HL), which refers to increased auditory threshold at high frequencies, is common in adults. However, genetic contributions to this post-lingual HL remain largely unknown. Here, we prospectively investigated deafness-associated and novel candidate genes causing ski-slope HL. We analyzed 192 families with post-lingual HL via gene panel and/or exome sequencing. With an overall molecular diagnostic rate of 35.4% (68/192) in post-lingual HL, ski-slope HL showed a lower diagnostic rate (30.7%) compared with other conditions (40.7%). In patients who showed HL onset before the age of 40, genetic diagnostic probability was significantly lower for ski-slope HL than for other conditions. Further analysis of 51 genetically undiagnosed patients in the ski-slope HL group identified three variants in delta-like ligand 1 (DLL1), a Notch ligand, which presented in vitro gain-of-function effects on Notch downstream signaling. In conclusion, genetic diagnostic rates in post-lingual HL varied according to audiogram patterns with age-of-onset as a confounding factor. DLL1 was identified as a candidate gene causing ski-slope HL.
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