Genetics of Paget's disease of bone

被引:29
作者
Michou, L
Collet, C
Laplanche, JL
Orcel, P
Cornélis, F
机构
[1] Hop Lariboisiere, Clin Genet Unit, F-75475 Paris 10, France
[2] Hop Lariboisiere, Dept Biochem, F-75475 Paris 10, France
[3] Lariboisiere Teaching Hosp, Assistance Publ Hop Paris, F-75475 Paris 10, France
关键词
Paget's disease of bone; Sequestosomel; mutations; genetic testing;
D O I
10.1016/j.jbspin.2005.05.009
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Paget's disease of bone is a chronic bone disease that affects up to 3% of Caucasians older than 55 years. The cause of Paget's disease is unknown but involves genetic factors. Familial cases display an autosomal dominant patient of inheritance with incomplete penetrance. Genetic heterogeneity has been demonstrated and eight potential susceptibility loci identified. There is sound evidence incriminating Sequestosome I (SQSTM1) on the long arm of chromosome 5 (5q35-qter), of which nine mutations have been described in Paget's disease of bone. These mutations are located in exons 7 and 8, which encode a highly conserved ubiquitin-binding domain. The prevalence of SQSTM1 mutations is about 10% in France. Tests for SQSTM1 mutations should be done in patients with Paget's disease of bone, even where the family history is negative. Detection of a mutation allows evaluation of family members to ensure early diagnosis of the disease before complications develop. (C) 2006 Elsevier SAS. All rights reserved.
引用
收藏
页码:243 / 248
页数:6
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