ArticleEuropean 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 Surgery2016
GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution.
Article in 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, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 25 citations in OpenAlex.
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- Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian Family.Molecular genetics & genomic medicine · 2025Article
- The role of viruses and molecular markers in the diagnosis and treatment of cancers and rare diseases: challenges and perspectives.Gastroenterology and hepatology from bed to bench · 2025Article
- Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.Molecular genetics and metabolism reports · 2024Article
- The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.Human genomics · 2024Article
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- A Mutational Hotspot in TheCell journal · 2024Article
- Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in theInternational journal of endocrinology · 2024Article
- Pancreatitis as a Main Consequence ofInternational journal of genomics · 2024Article
- Molecular Mechanisms and Clinical Phenotypes ofBiology · 2023Review
- Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.PloS one · 2023Article
- GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.Journal of clinical laboratory analysis · 2021Article
- Situation Analysis of Ear and Hearing Care Program in Islamic Republic of Iran: System's Challenges and Proper Interventions.Medical journal of the Islamic Republic of Iran · 2021Article
- Review
- Report of a Novel Splicing Mutation in theClinical medicine insights. Case reports · 2019Article
- Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2017Article
- Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.Archives of Iranian medicine · 2016Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hearing loss is the most common sensory defect caused by heterogeneous factors. Up to now, more than 60 mutations in genes have been documented for nonsyndromic hearing loss. Hence, finding the causal gene in affected families could be a laborious and time-consuming process. GJB2 mutations, here, were investigated among deaf subjects of Ilam for the first time. In this study, we studied 62 unrelated patients with non-syndromic autosomal recessive deafness from 62 families. The most common mutation of GJB2, 35delG was checked, followed by direct sequencing of the GJB2 gene for determination of other mutations. In silico analyses were also performed using available software. In nine families, mutations in the connexin 26 gene were observed. In the studied population, R32H was the most common mutation. 35delG, W24X, and R127H were other mutations found in this study. In silico analyses showed pathogenicity of 35delG, R32H, and W24X but not R127H. Low frequency of GJB2 mutations in this population is probably indicative of the fact that other genes may be involved in nonsyndromic hearing loss in Ilam populations. In the other hand, the vicinity of Ilam and Iraq suggests that GJB2 mutations have likely a low frequency in this population.
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