ReviewHuman genetics2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Review in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.
- Delayed hearing loss in congenital cytomegalovirus infection: systematic review and meta-analysis.Brazilian journal of otorhinolaryngologyPooled it
- The Gut-Ear Axis: From Dysbiosis to Auditory and Vestibular Disorders.International journal of molecular sciences · 2026Review
- Isolated Congenital Ossicular Chain Anomalies.Cureus · 2026Article
- A comparative survey of functional evidence use in hearing and vision loss genetics.Communications medicine · 2026Article
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Scientific reports · 2026Article
- Article
- Diagnostic Yield in Childhood-Onset Hearing Loss: A Meta-Analysis and Systematic Review.Life (Basel, Switzerland) · 2026Review
- Frequency and Hearing Loss Phenotypes ofGenes · 2026Article
- Genomic Biomarkers and Mutational Landscape of Nonsyndromic Hearing Loss (NSHL) in the Singaporean Population: Clinical Translational Implications.Biomolecules · 2026Article
- Concurrent physiologic and gene-based genetic newborn hearing screening in a general population.Human genomics · 2026Article
- The Clinical Details ofGenes · 2026Article
- Current Status of Pediatric Hearing Loss Cases in Oita University Hospital From 2016 to 2019.Clinical medicine insights. Pediatrics · 2026Article
- Targeted long-read nanopore sequencing as a complementary approach for detecting STRC variants and distinguishing the STRCP1 pseudogene.Scientific reports · 2025Article
- The tectorial membrane has a critical role in metabolic age-related hearing loss.EBioMedicine · 2025Article
- Regional Patterns and Risk Factors of Hearing Loss: A Cross-Sectional Study Across Saudi Arabia.Cureus · 2025Article
- Use of the FLEX 28 Dexamethasone-Eluting Cochlear Implant Electrode in Electric-Acoustic Stimulation: A Case Report.Audiology research · 2025Article
- Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.Biomedical reports · 2025Article
- Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.Molecular medicine (Cambridge, Mass.) · 2025Article
- Prevalence and Clinical Characteristics ofGenes · 2025Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Etiological studies have shown genetic disorders to be a major cause of sensorineural hearing loss, but there are a limited number of comprehensive etiological reports based on genetic analysis. In the present study, the same platform using a diagnostic DNA panel carrying 63 deafness genes and the same filtering algorithm were applied to 10,047 samples obtained from social health insurance-based genetic testing of hearing loss. The most remarkable result obtained in this comprehensive study was that the data first clarified the genetic epidemiology from congenital/early-onset deafness to late-onset hearing loss. The overall diagnostic rate was 38.8%, with the rate differing for each age group; 48.6% for the congenital/early-onset group (~5y.o.), 33.5% for the juvenile/young adult-onset group, and 18.0% for the 40+ y.o. group. Interestingly, each group showed a different kind of causative gene. With regard to the mutational spectra, there are certain recurrent variants that may be due to founder effects or hot spots. A series of haplotype studies have shown many recurrent variants are due to founder effects, which is compatible with human migration. It should be noted that, regardless of differences in the mutational spectrum, the clinical characteristics caused by particular genes can be considered universal. This comprehensive review clarified the detailed clinical characteristics (onset age, severity, progressiveness, etc.) of hearing loss caused by each gene, and will provide useful information for future clinical application, including genetic counseling and selection of appropriate interventions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.