ArticleInternational journal of pediatric otorhinolaryngology2011
Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.
Article in International journal of pediatric otorhinolaryngology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review.Omics : a journal of integrative biology · 2022Pooled it
- Increased risk of aminoglycoside-induced hearing loss in MDR-TB patients with HIV coinfection.The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease · 2018Pooled it
- Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.Molecular genetics & genomic medicine · 2022Article
- Article
- Hearing loss in Africa: current genetic profile.Human genetics · 2022Review
- African genetic diversity and adaptation inform a precision medicine agenda.Nature reviews. Genetics · 2021Review
- Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon.Molecular genetics & genomic medicine · 2021Article
- Spectrum ofGenes · 2021Article
- Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.Life (Basel, Switzerland) · 2020Review
- Review
- Article
- Adverse outcome pathway for aminoglycoside ototoxicity in drug-resistant tuberculosis treatment.Archives of toxicology · 2019Article
- Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.Scientific reports · 2019Article
- Article
- Genes important for otoneurological diagnostic purposes - current status and future prospects.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2018Review
- Public Health Burden of Hearing Impairment and the Promise of Genomics and Environmental Research: A Case Study in Ghana, Africa.Omics : a journal of integrative biology · 2017Review
- A Genomic and Protein-Protein Interaction Analyses of Nonsyndromic Hearing Impairment in Cameroon Using Targeted Genomic Enrichment and Massively Parallel Sequencing.Omics : a journal of integrative biology · 2017Article
- Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.Annals of human genetics · 2016Article
- Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic 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 · 2016Article
- Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
Abstract
objectiveThe purpose of this study was to determine the prevalence of mutations in the GJB2 gene, the GJB6-D13S1830 deletion and the four common mitochondrial mutations (A1555G, A3243G, A7511C and A7445G) in a South African population.
methodsUsing single-strand conformation polymorphism and direct sequencing for screening GJB2 mutation; Multiplex PCR Amplification for GJB6-D13S1830 deletion and Restriction Fragment-Length Polymorphism (PCR-RFLP) analysis for the four common mtDNA mutations. We screened 182 hearing impaired students to determine the frequency of these mutations in the population.
resultsNone of the reported disease causing mutations in GJB2 nor any novel pathogenic mutations in the coding region were detected, in contrast to the findings among Caucasians. The GJB6-D13S1830 deletion and the mitochondrial mutations were not observed in this group.
conclusionThese results suggest that GJB2 may not be a significant deafness gene among sub-Saharan Africans, pointing to other unidentified genes as responsible for nonsyndromic hearing loss in these populations.
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What OpenQuestion holds
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 OpenQuestion graph.