OMIM: 143890Inheritance: Autosomal dominant
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | LDLR |
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| Dna Change: | c.1477_1479delinsAGAGACA |
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| Protein Change: | p.S493RfsX44 |
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| Mutation Type: | |
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| Mutation Effect: | |
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| Location: | exon 10 |
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| Transcript: | NM_000527.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | Souassi | 3 families | NA | Slimane MN et al., 2001Slimane MN, Lestavel S, Sun X, Maatouk F, Soutar AK, Ben Farhat MH, Clavey V, Benlian P, Hammami M, . Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families.. Atherosclerosis. 2001; 154(3):557-65 |
| Tunisia | NA | NA | 2 families | NA | Jelassi A et al., 2009Jelassi A, Jguirim I, Najah M, Abid AM, Boughamoura L, Maatouk F, Rouis M, Boileau C, Rabès JP, Slimane MN, Varret M, . Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.. Atherosclerosis. 2009; 203(2):449-53 |
| Gene/Locus: | LDLR |
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| Dna Change: | c.1775G>A |
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| Protein Change: | p.Gly592Glu (G571E) |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 12 |
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| Transcript: | NM_000527.4 |
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| Gene/Locus: | LDLR |
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| Dna Change: | c.2043C>A |
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| Protein Change: | p.Cys681X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 14 |
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| Transcript: | NM_000527.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Lebanon | NA | NA | 81.5% | NA | Abifadel M et al., 2009Abifadel M, Rabès JP, Jambart S, Halaby G, Gannagé-Yared MH, Sarkis A, Beaino G, Varret M, Salem N, Corbani S, Aydénian H, Junien C, Munnich A, Boileau C, . The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.. Hum. Mutat.. 2009; 30(7):E682-91 |
References
Abifadel M, Rabès JP, Jambart S, Halaby G, Gannagé-Yared MH, Sarkis A, Beaino G, Varret M, Salem N, Corbani S, Aydénian H, Junien C, Munnich A, Boileau C, The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.Hum. Mutat.. 2009; 30(7):E682-91
Jelassi A, Jguirim I, Najah M, Abid AM, Boughamoura L, Maatouk F, Rouis M, Boileau C, Rabès JP, Slimane MN, Varret M, Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.Atherosclerosis. 2009; 203(2):449-53
Miltiadous G, Elisaf M, Bairaktari H, Xenophontos SL, Manoli P, Cariolou MA, Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.Hum. Mutat.. 2001; 17(5):432-3
Slimane MN, Lestavel S, Sun X, Maatouk F, Soutar AK, Ben Farhat MH, Clavey V, Benlian P, Hammami M, Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families.Atherosclerosis. 2001; 154(3):557-65