OMIM: 218800Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | UGT1A1 |
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| Dna Change: | c.1070A>G |
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| Protein Change: | p.Gln357Arg |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 3 |
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| Transcript: | NM_000463.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 6 patients/6 unrelated families | NA | Francoual J et al., 2002Francoual J, Rivierre A, Mokrani C, Khrouf N, Gottrand F, Myara A, Le Bihan B, Capel L, Lindenbaum A, Labrune P, . Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene.. Hum. Mutat.. 2002; 19(5):570-1 |
| Tunisia | NA | NA | 21 patients/21 patients | 32 generations ago | Petit FM et al., 2008Petit FM, Bézieau S, Gajdos V, Parisot F, Scoul C, Capel L, Stozinic V, Khrouf N, M'Rad R, Koshy A, Mollet-Boudjemline A, Francoual J, Labrune P, . The Tunisian population history through the Crigler-Najjar type I syndrome.. Eur. J. Hum. Genet.. 2008; 16(7):848-53 |
| Gene/Locus: | UGT1A1 |
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| Dna Change: | c.1201G>C |
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| Protein Change: | p.Ala401Pro |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 4 |
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| Transcript: | NM_000463.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| France | NA | NA | NA | NA | Labrune P et al., 1994Labrune P, Myara A, Hadchouel M, Ronchi F, Bernard O, Trivin F, Chowdhury NR, Chowdhury JR, Munnich A, Odièvre M, . Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.. Hum. Genet.. 1994; 94(6):693-7 |
References
Francoual J, Rivierre A, Mokrani C, Khrouf N, Gottrand F, Myara A, Le Bihan B, Capel L, Lindenbaum A, Labrune P, Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene.Hum. Mutat.. 2002; 19(5):570-1
Labrune P, Myara A, Hadchouel M, Ronchi F, Bernard O, Trivin F, Chowdhury NR, Chowdhury JR, Munnich A, Odièvre M, Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.Hum. Genet.. 1994; 94(6):693-7
Petit FM, Bézieau S, Gajdos V, Parisot F, Scoul C, Capel L, Stozinic V, Khrouf N, M'Rad R, Koshy A, Mollet-Boudjemline A, Francoual J, Labrune P, The Tunisian population history through the Crigler-Najjar type I syndrome.Eur. J. Hum. Genet.. 2008; 16(7):848-53