Trial reportJournal of human genetics2015
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.
Trial report in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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.
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Who cites it
16 citing papers in PubMed, 38 citations in OpenAlex.
- Carrier frequency of autosomal recessive monogenic disorders in the peruvian population.Frontiers in genetics · 2026Article
- ShH10 viral vector for safe, efficient, and selective transduction of inner ear supporting cells.Developmental biology · 2025Article
- Mutation Spectrum ofInternational journal of molecular sciences · 2025Article
- Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.BMC medical genomics · 2024Article
- Hearing and Hearing Loss Progression in Patients withInternational journal of molecular sciences · 2023Article
- Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss.Scientific reports · 2021Article
- NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.BMC medical genetics · 2020Article
- [Analysis of genotypes and hearing phenotypes of mutation infants with deafness].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2020Article
- GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family.International journal of dermatology · 2019Article
- Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population.Genes · 2019Article
- Diagnostic pitfalls forClinical case reports · 2018Article
- Human diseases associated with connexin mutations.Biochimica et biophysica acta. Biomembranes · 2018Review
- Frequency of c.35delG Mutation inGenetics research international · 2017Article
- DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.Frontiers in molecular neuroscience · 2017Review
- Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing loss.Therapeutics and clinical risk management · 2016Article
- GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder.Genetics and molecular biologyArticle
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hearing impairment is one of the most common sensory disorders that affect ~1 in 1000 children, and half of them are considered to be hereditary. Information about the carrier frequencies of mutations that underlie autosomal recessive disorders is indispensable for accurate genetic counseling to predict the probability of patients' children's disease. However, there have been few reports specific to the Japanese population. GJB2 mutations are reported to be the most frequent cause of hereditary hearing loss, and the mutation spectrum and frequency of GJB2 mutations were reported to vary among different ethnic groups. In this study, we investigated the carrier frequency of GJB2 mutations and the mutation spectrum in 509 individuals randomly selected from the general Japanese population. We show that the carrier frequencies of the two most common pathogenic mutations are 1.57% (8/509) for c.235delC and 1.77% (9/509) for p.Val37Ile. In addition to these mutations, we found two pathogenic variants (p.[Gly45Glu;Tyr136*] and p.Arg143Trp), and the total carrier frequency was estimated to be around 3.73% (19/509). We also detected six unclassified variants, including two novel variants (p.Cys60Tyr and p.Phe106Leu), with the former predicted to be pathogenic. These findings will provide indispensable information for genetic counseling in the Japanese population.
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