ArticleJournal of human genetics2022
Genetic background in late-onset sensorineural hearing loss patients.
Article in Journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Late-onset, progressive sensorineural hearing loss in the paediatric population: a systematic review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2024Pooled it
- Clinical characteristics and hearing impairment in carriers of the m.3243 A > G variant.Journal of human genetics · 2026Article
- Atrophy of cerebellum Crus I indicates poor outcome of cochlear implantation in the elderly.Scientific reports · 2025Article
- Surgical Considerations in Inner Ear Gene Therapy from Human Temporal Bone Anatomy.The Laryngoscope · 2024Article
- Can Cochlear Nerve Size Assessment With Magnetic Resonance Enhance the Understanding of Idiopathic Sudden Sensorineural Hearing Loss?Journal of audiology & otology · 2024Article
- Spectrum of genetic variants in bilateral sensorineural hearing loss.Frontiers in genetics · 2024Article
- Effect of Cochlear Implant Electrode Insertion Depth on Speech Perception Outcomes: A Systematic Review.Otology & neurotology open · 2023Article
- Article
- Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.Journal of personalized medicine · 2022Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Genetic testing for congenital or early-onset hearing loss patients has become a common diagnostic option in many countries. On the other hand, there are few late-onset hearing loss patients receiving genetic testing, as late-onset hearing loss is believed to be a complex disorder and the diagnostic rate for genetic testing in late-onset patients is lower than that for the congenital cases. To date, the etiology of late-onset hearing loss is largely unknown. In the present study, we recruited 48 unrelated Japanese patients with late-onset bilateral sensorineural hearing loss, and performed genetic analysis of 63 known deafness gene using massively parallel DNA sequencing. As a result, we identified 25 possibly causative variants in 29 patients (60.4%). The present results clearly indicated that various genes are involved in late-onset hearing loss and a significant portion of cases of late-onset hearing loss is due to genetic causes. In addition, we identified two interesting cases for whom we could expand the phenotypic description. One case with a novel MYO7A variant showed a milder phenotype with progressive hearing loss and late-onset retinitis pigmentosa. The other case presented with Stickler syndrome with a mild phenotype caused by a homozygous frameshift COL9A3 variant. In conclusion, comprehensive genetic testing for late-onset hearing loss patients is necessary to obtain accurate diagnosis and to provide more appropriate treatment for these patients.
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