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Joint Bone Spine
Volume 73, n° 3
pages 243-248 (mai 2006)
Doi : 10.1016/j.jbspin.2005.05.009
Received : 2 November 2004 ;  accepted : 15 May 2005
Genetics of Paget's disease of bone
 

Laëtitia Michou a, , Corinne Collet b, Jean-Louis Laplanche b, Philippe Orcel c, François Cornélis a
a Clinical genetics unit, hôpital Lariboisière, 2, rue Ambroise-Paré, 75475 Paris cedex 10, France 
b Biochemistry department, hôpital Lariboisière, 2, rue Ambroise-Paré, 75475 Paris cedex 10, France 
c Rheumatology federation, Lariboisière teaching hospital, Assistance Publique-Hôpitaux de Paris, 2, rue Ambroise-Paré, 75475 Paris cedex 10, France 

Corresponding author. Tel.: +33 1 49 95 86 43; fax: +33 1 49 95 88 30.
Abstract

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 pattern of inheritance with incomplete penetrance. Genetic heterogeneity has been demonstrated and eight potential susceptibility loci identified. There is sound evidence incriminating Sequestosome 1 (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.

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Keywords : Paget's disease of bone, Sequestosome1, Mutations, Genetic testing




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