OMIM: 277460Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | TTPA |
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| Dna Change: | c.744delA |
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| Protein Change: | p.Glu249AsnfsX15 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 5 |
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| Transcript: | NM_000370.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Morocco | NA | NA | 3 families | NA | Ouahchi K et al., 1995Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M, . Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.. Nat. Genet.. 1995; 9(2):141-5 |
| Tunisia | NA | NA | 91.7% of the patients were homozygous (121/132 patients) | NA | El Euch-Fayache G et al., 2014El Euch-Fayache G, Bouhlal Y, Amouri R, Feki M, Hentati F, . Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.. Brain. 2014; 137(0):402-10 |
| Tunisia | NA | NA | 5 families | NA | Ouahchi K et al., 1995Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M, . Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.. Nat. Genet.. 1995; 9(2):141-5 |
References
El Euch-Fayache G, Bouhlal Y, Amouri R, Feki M, Hentati F, Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.Brain. 2014; 137(0):402-10
Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M, Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.Nat. Genet.. 1995; 9(2):141-5