OMIM: 273750Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CUL7 |
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| Dna Change: | c.4449_4450delTG |
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| Protein Change: | p.Val1484GlyfsX69 |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Frameshift |
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| Location: | exon 24 |
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| Transcript: | NM_014780.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Algeria | NA | NA | 1 family | NA | Huber C et al., 2005Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V, . Identification of mutations in CUL7 in 3-M syndrome.. Nat. Genet.. 2005; 37(10):1119-24 |
| Tunisia | NA | NA | 4 families / 5 families | NA | Huber C et al., 2005Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V, . Identification of mutations in CUL7 in 3-M syndrome.. Nat. Genet.. 2005; 37(10):1119-24 |
References
Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V, Identification of mutations in CUL7 in 3-M syndrome.Nat. Genet.. 2005; 37(10):1119-24