Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36

被引:2
作者
Zguricas, J
Heus, H
Morales-Peralta, E
Breedveld, G
Kuyt, B
Mumcu, EF
Bakker, W
Akarsu, N
Kay, SPJ
Hovius, SER
Heredero-Baute, L
Oostra, BA
Heutink, P
机构
[1] Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
[2] Erasmus Univ, Dept Plast & Reconstruct Surg, Rotterdam, Netherlands
[3] Natl Ctr Med Genet, Dept Clin Genet, Havana, Cuba
[4] Vrije Univ Amsterdam, Dept Anthropogenet, Amsterdam, Netherlands
[5] Social Secur Hosp, Orthopaed Clin, Ankara, Turkey
[6] Univ Hacettepe, DNA Cell Bank, Inst Child Hlth, TR-06100 Ankara, Turkey
[7] Univ Hacettepe, Gene Res Lab, Inst Child Hlth, TR-06100 Ankara, Turkey
[8] St James Hosp, Dept Plast & Reconstruct Surg, Leeds LS9 7TF, W Yorkshire, England
关键词
preaxial polydactyly; chromosome; 7q36; localisation;
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Polydactyly is the most frequently observed congenital hand malformation with a prevalence between 5 and 19 per 10000 live births. It can occur as an isolated disorder, in association with other hand/foot malformations, or as a part of a syndrome, and is usually inherited as an autosomal dominant trait. According to its anatomical location, polydactyly can be generally subdivided into pre- and postaxial forms. Recently, a gene responsible for preaxial polydactyly types II and III, as well as complex polysyndactyly, has been localised to chromosome 7q36. In order to facilitate the search for the underlying genetic defect, we ascertained 12 additional families of different ethnic origin affected with preaxial polydactyly. Eleven of the kindreds investigated could be linked to chromosome 7q36, enabling us to refute the critical region for the preaxial polydactyly gene to a region of 1.9 cM. Our findings also indicate that radial and tibial dysplasia/aplasia can be associated with preaxial polydactyly on chromosome 7q36. Combining our results with other studies suggests that all non-syndromic preaxial polydactylies associated with triphalangism of the thumb are caused by a single genetic locus, but that there is genetic heterogeneity for preaxial polydactyly associated with duplications of biphalangeal thumbs. Comparison of the phenotypic and genetic findings of different forms of preaxial polydactyly is an important step in analysing and understanding the aetiology and pathogenesis of these limb malformations.
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页码:32 / 40
页数:9
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