ArticleOrphanet journal of rare diseases2013
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 3 of them syntheses that pooled it.
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Who cites it
56 citing papers in PubMed, 3 syntheses or guidelines pooled it, 96 citations in OpenAlex.
- Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.Communications biology · 2022Pooled it
- The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis.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 · 2019Pooled it
- Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Pooled it
- Identification of a novel POU4F3 frameshift variant in a Chinese family with autosomal dominant hearing loss.European journal of medical research · 2025Article
- Hearing Loss and Audiogenic Seizures Induced by Hypofunctional Prestin Variants.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.Human genetics · 2025Article
- Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.Molecular genetics & genomic medicine · 2024Article
- The pathogenic roles of the p.R130S prestin variant in DFNB61 hearing loss.The Journal of physiology · 2024Article
- Functional Studies of Deafness-Associated Pendrin and Prestin Variants.International journal of molecular sciences · 2024Article
- Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.European journal of human genetics : EJHG · 2023Article
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- Prestin's fast motor kinetics is essential for mammalian cochlear amplification.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.Human genomics · 2023Article
- Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature.Medicina (Kaunas, Lithuania) · 2022Review
- Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.Orphanet journal of rare diseases · 2022Article
- Unexpected role ofJournal of medical genetics · 2022Article
- De NovoInternational journal of molecular sciences · 2022Article
- DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.Audiology research · 2021Article
- Article
- A novel variant inExperimental biology and medicine (Maywood, N.J.) · 2021Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic tests for hereditary hearing loss inform clinical management of patients and can provide the first step in the development of therapeutics. However, comprehensive genetic tests for deafness genes by Sanger sequencing is extremely expensive and time-consuming. Next-generation sequencing (NGS) technology is advantageous for genetic diagnosis of heterogeneous diseases that involve numerous causative genes.
methodsGenomic DNA samples from 58 subjects with hearing loss from 15 unrelated Japanese families were subjected to NGS to identify the genetic causes of hearing loss. Subjects did not have pathogenic GJB2 mutations (the gene most often associated with inherited hearing loss), mitochondrial m.1555A>G or 3243A>G mutations, enlarged vestibular aqueduct, or auditory neuropathy. Clinical features of subjects were obtained from medical records. Genomic DNA was subjected to a custom-designed SureSelect Target Enrichment System to capture coding exons and proximal flanking intronic sequences of 84 genes responsible for nonsyndromic or syndromic hearing loss, and DNA was sequenced by Illumina GAIIx (paired-end read). The sequences were mapped and quality-checked using the programs BWA, Novoalign, Picard, and GATK, and analyzed by Avadis NGS.
resultsCandidate genes were identified in 7 of the 15 families. These genes were ACTG1, DFNA5, POU4F3, SLC26A5, SIX1, MYO7A, CDH23, PCDH15, and USH2A, suggesting that a variety of genes underlie early-childhood hearing loss in Japanese patients. Mutations in Usher syndrome-related genes were detected in three families, including one double heterozygous mutation of CDH23 and PCDH15.
conclusionTargeted NGS analysis revealed a diverse spectrum of rare deafness genes in Japanese subjects and underscores implications for efficient genetic testing.
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