OMIM: 231550Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | AAAS |
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| Dna Change: | c.1331+1G> A (c.IVS14+1G>A) |
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| Protein Change: | |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Splice site |
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| Location: | Intron 14 |
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| Transcript: | NM_015665.5 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Algeria | NA | NA | NA | more than 2400 years ago | Tullio-Pelet A et al., 2000Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Bégeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S, . Mutant WD-repeat protein in triple-A syndrome.. Nat. Genet.. 2000; 26(3):332-5 |
| Tunisia | NA | NA | 1 patient | NA | Cherif Ben Abdallah L et al., 2014Cherif Ben Abdallah L, Lakhoua Y, Nagara M, Khiari K, Elouej S, Messaoud O, Bouyacoub Y, Romdhane L, Turki Z, Abdelhak S, Ben Abdallah N, . A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism.. Horm Res Paediatr. 2014; 0(0): |
References
Cherif Ben Abdallah L, Lakhoua Y, Nagara M, Khiari K, Elouej S, Messaoud O, Bouyacoub Y, Romdhane L, Turki Z, Abdelhak S, Ben Abdallah N, A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism.Horm Res Paediatr. 2014; 0(0):
Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Bégeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S, Mutant WD-repeat protein in triple-A syndrome.Nat. Genet.. 2000; 26(3):332-5