ArticlePloS one2014
Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- PAM-flexible SpCas9 variants expand the targeting scope for porcine genome editing and cellular disease modeling.BMC biotechnology · 2026Article
- Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss.Scientific reports · 2025Article
- AAV-mediated base editing restores cochlear gap junction in GJB2 dominant-negative mutation-associated syndromic hearing loss model.JCI insight · 2025Article
- Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants inFrontiers in pediatrics · 2025Article
- Next-generation sequencing improves precision medicine in hearing loss.Frontiers in genetics · 2023Article
- De novo variants are a common cause of genetic hearing loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Genetic etiology of non-syndromic hearing loss in Latin America.Human genetics · 2022Review
- Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.Human genetics · 2022Article
- Case Report: A NovelFrontiers in genetics · 2022Article
- A Novel Frameshift Variant of theMolecular syndromology · 2021Article
- Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.Molecular genetics & genomic medicine · 2021Article
- Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family.Medicine · 2019Article
- A novel dominant GJB2 (DFNA3) mutation in a Chinese family.Scientific reports · 2017Article
- Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.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 · 2017Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dominant mutations in GJB2 may lead to various degrees of sensorineural hearing impairment and/or hyperproliferative epidermal disorders. So far studies of dominant GJB2 mutations were mostly limited to case reports of individual patients and families. In this study, we identified 7 families, 11 subjects with dominant GJB2 mutations by sequencing of GJB2 in 2168 Chinese Han probands with sensorineural hearing impairment and characterized the associated spectrum, de novo rate and genotype-phenotype correlation. We identified p.R75Q, p.R75W and p.R184Q as the most frequent dominant GJB2 mutations among Chinese Hans, which had a very high de novo rate (71% of probands). A majority (10/11) of subjects carrying dominant GJB2 mutations exhibited palmoplantar keratoderma in addition to hearing impairment. In two families segregated with additional c.235delC or p.V37I mutations of GJB2, family members with the compound heterozygous mutations exhibited more severe phenotype than those with single dominant GJB2 mutation. Our study suggested that the high de novo mutation rate gives rise to a significant portion of dominant GJB2 mutations. The severity of the hearing and epidermal phenotypes associated with dominant GJB2 mutations may be modified by additional recessive mutations of GJB2.
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