OMIM: 600974Inheritance: Autosomal recessive
Classification: Diseases of the ear and mastoid process
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | TMC1 |
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| Dna Change: | c.100C>T |
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| Protein Change: | p.Arg34X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 7 |
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| Transcript: | NM_138691.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Algeria | NA | NA | 2 patients/54 patients | between 1075 and 1900 years | Ben Saïd M et al., 2010Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S, . High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.. Genet Test Mol Biomarkers. 2010; 14(3):307-11 |
| Lebanon | NA | NA | 1 patient | NA | Ben Saïd M et al., 2010Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S, . High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.. Genet Test Mol Biomarkers. 2010; 14(3):307-11 |
| Tunisia | NA | NA | 4 patients | between 1075 and 1900 years | Ben Saïd M et al., 2010Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S, . High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.. Genet Test Mol Biomarkers. 2010; 14(3):307-11 |
| Turkey | NA | NA | 1 patient | NA | Ben Saïd M et al., 2010Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S, . High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.. Genet Test Mol Biomarkers. 2010; 14(3):307-11 |
References
Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S, High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.Genet Test Mol Biomarkers. 2010; 14(3):307-11