ArticleAnnals of human genetics2010
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.
Article in Annals of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- A systematic review and meta-analysis of 235delC mutation of GJB2 gene.Journal of translational medicine · 2012Pooled it
- GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.International journal of molecular sciences · 2026Review
- Genetic Basis of Hearing Loss in Mongolian Patients: A Next-Generation Sequencing Study.Genes · 2024Article
- TheGenes · 2023Article
- Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.Genes · 2023Review
- 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 hearing loss in Russia.Human genetics · 2022Review
- A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.Human genetics · 2022Article
- Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in theBiomolecules · 2021Article
- High Rates of Three CommonGenes · 2020Article
- Deaf intermarriage has limited effect on the prevalence of recessive deafness and no effect on underlying allelic frequency.PloS one · 2020Article
- The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas.The journal of international advanced otology · 2019Article
- Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population.Genes · 2019Article
- Unique Mutational Spectrum of theGenes · 2019Article
- Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection.European journal of human genetics : EJHG · 2018Article
- Article
- A Mayan founder mutation is a common cause of deafness in Guatemala.Clinical genetics · 2016Article
- The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.BMC genetics · 2016Observational
- Article
- GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.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 · 2015Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
We screened the GJB2 gene for mutations in 534 (108 multiplex and 426 simplex) probands with non-syndromic sensorineural deafness, who were ascertained through the only residential school for the deaf in Mongolia, and in 217 hearing controls. Twenty different alleles, including four novel changes, were identified. Biallelic GJB2 mutations were found in 4.5% of the deaf probands (8.3% in multiplex, 3.5% in simplex). The most common mutations were c.IVS1 + 1G > A (c.-3201G > A) and c.235delC with allele frequencies of 3.5% and 1.5%, respectively. The c.IVS1 + 1G > A mutation appears to have diverse origins based on associated multiple haplotypes. The p.V27I and p.E114G variants were frequently detected in both deaf probands and hearing controls. The p.E114G variant was always in cis with the p.V27I variant. Although in vitro experiments using Xenopus oocytes have suggested that p.[V27I;E114G] disturbs the gap junction function of Cx26, the equal distribution of this complex allele in both deaf probands and hearing controls makes it a less likely cause of profound congenital deafness. We found a lower frequency of assortative mating (37.5%) and decreased genetic fitness (62%) of the deaf in Mongolia as compared to the western populations, which provides an explanation for lower frequency of GJB2 deafness in Mongolia.
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