Phenotype: 3-M syndrome 1


OMIM: 273750
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

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CUL7 || c.4449_4450delTG

Gene/Locus:    CUL7
Dna Change:    c.4449_4450delTG
Protein Change:    p.Val1484GlyfsX69
Mutation Type:    Substitution
Mutation Effect:    Frameshift
Location:    exon 24
Transcript:    NM_014780.4

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
AlgeriaNANA1 familyNAHuber 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
TunisiaNANA4 families / 5 familiesNAHuber 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