Variable phenotype in Greig cephalopolysyndactyly syndrome:: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations

被引:30
作者
Debeer, P
Peeters, H
Driess, S
De Smet, L
Freese, K
Matthijs, G
Bornholdt, D
Devriendt, K
Grzeschik, KH
Fryns, JP
Kalff-Suske, M
机构
[1] Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium
[2] Univ Hosp Pellenberg, Dept Orthopaed Surg, Pellenberg, Belgium
[3] Univ Marburg, Inst Allgemeine Humangenet, Zentrum Humangenet, Marburg, Germany
关键词
cephalopolysyndactyly; preaxial polydactyly; postaxial polydactyly; GLI3; variability; penetrance;
D O I
10.1002/ajmg.a.20018
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Greig cephalopolysyndactyly (GCPS) (OMIM 175700) is an autosomal dominant disorder characterized by a distinct combination of craniofacial, hand and foot malformations. In this report, clinical and radiological findings of 12 patients with GCPS derived from 4 independent families and 3 sporadic cases with documented GLI3 mutations are presented with particular emphasis on inter-and intrafamilial variability. In a particularly instructive family in which 9 members of 4 generations could be studied clinically and molecularly, a missense mutation (R625W) is transmitted and shows a partially penetrant pattern. In a branch of the family, the GCPS phenotype skips a generation via a normal female carrier without clinical signs providing evidence that GCPS does not always manifest full penetrance as generally supposed. (C) 2003 Wiley-Liss, Inc.
引用
收藏
页码:49 / 58
页数:10
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