OMIM: 611451Inheritance: Autosomal recessive
Classification: Diseases of the ear and mastoid process
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | LRTOMT |
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| Dna Change: | c.242G>A |
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| Protein Change: | p.Arg81Gln |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 5 |
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| Transcript: | NM_001145308.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 7 families | NA | Ahmed ZM et al., 2008Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H, . Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.. Nat. Genet.. 2008; 40(11):1335-40 |
References
Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H, Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.Nat. Genet.. 2008; 40(11):1335-40