OMIM: 224100Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | SEC23B |
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| Dna Change: | c.325G>A |
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| Protein Change: | p.Glu109Lys |
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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_006363.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 28.0% | 2200 years ago | Russo R et al., 2011Russo R, Gambale A, Esposito MR, Serra ML, Troiano A, De Maggio I, Capasso M, Luzzatto L, Delaunay J, Tamary H, Iolascon A, . Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.. Am. J. Hematol.. 2011; 86(9):727-32 |
| Morocco | Jews | NA | 11 patients/8 families | 2400 years ago | Amir A et al., 2011Amir A, Dgany O, Krasnov T, Resnitzky P, Mor-Cohen R, Bennett M, Berrebi A, Tamary H, . E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.. Acta Haematol.. 2011; 125(4):202-7 |
| Gene/Locus: | SEC23B |
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| Dna Change: | c.40C>T |
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| Protein Change: | p.Arg14Trp |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 2 |
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| Transcript: | NM_032985.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 26.3% | 3000 years ago | Russo R et al., 2011Russo R, Gambale A, Esposito MR, Serra ML, Troiano A, De Maggio I, Capasso M, Luzzatto L, Delaunay J, Tamary H, Iolascon A, . Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.. Am. J. Hematol.. 2011; 86(9):727-32 |
References
Amir A, Dgany O, Krasnov T, Resnitzky P, Mor-Cohen R, Bennett M, Berrebi A, Tamary H, E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.Acta Haematol.. 2011; 125(4):202-7
Russo R, Gambale A, Esposito MR, Serra ML, Troiano A, De Maggio I, Capasso M, Luzzatto L, Delaunay J, Tamary H, Iolascon A, Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.Am. J. Hematol.. 2011; 86(9):727-32