ArticleJournal of human genetics2017
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.
Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Article
- Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.Human genomics · 2023Article
- Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.Genes · 2023Review
- The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.Human genetics · 2022Review
- Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.Human genetics · 2022Review
- Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.BMC medical genomics · 2022Article
- Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.Human genetics · 2020Article
- The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis.Iranian journal of basic medical sciences · 2020Review
- In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss.Journal, genetic engineering & biotechnology · 2020Article
- Haplotype Analysis ofGenes · 2020Article
- AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics.Computational and structural biotechnology journal · 2020Article
- Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.BMC medical genetics · 2019Article
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18 authors.
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Abstract
The increased risk for autosomal recessive disorders is one of the most well-known medical implications of consanguinity. In the Sultanate of Oman, a country characterized by one of the highest rates of consanguineous marriages worldwide, prevalence of genetic hearing loss (GHL) is estimated to be 6/10 000. Families of GHL patients have higher consanguinity rates than the general Omani population, indicating a major role for recessive forms. Mutations in GJB2, the most commonly mutated GHL gene, have been sporadically described. We collected 97 DNA samples of GHL probands, affected/unaffected siblings and parents from 26 Omani consanguineous families. Analyzing a first family by whole-exome sequencing, we identified a novel homozygous frameshift duplication (c.1171_1177dupGCCATCT) in MYO15A, the gene linked to the deafness locus DFNB3. This duplication was then found in a total of 8/26 (28%) families, within a 849 kb founder haplotype. Reconstruction of haplotype structure at MYO15A surrounding genomic regions indicated that the founder haplotype branched out in the past two to three centuries from a haplotype present worldwide. The MYO15A duplication emerges as the major cause of GHL in Oman. These findings have major implications for the design of GHL diagnosis and prevention policies in Oman.
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