Paget's disease of bone in the French population:: Novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations

被引：46

作者：

Collet, Corinne

Michou, Laetitia

Audran, Maurice

Chasseigneaux, Stephanie

Hilliquin, Pascal

Bardin, Thomas

Lemaire, Isabelle

Cornelis, Francois

Launay, Jean-Marie

Orcel, Philippe

Laplanche, Jean-Louis

机构：

[1] Hop Lariboisiere, AP HP, Serv Biochim & Biol Mol, F-75475 Paris, France

[2] Hop Lariboisiere, AP HP, Federat Rhumatol, Paris, France

[3] Serv Rhumatol, Angers, France

[4] INSERM, Fac Med, EMI 0335, Angers, France

[5] Ctr Hosp Sud Francillien, Serv Rhumatol, Corbeil Essonnes, France

[6] Ctr Hosp Sud Francillien, Biol Lab, Corbeil Essonnes, France

[7] Hop Lariboisiere, AP HP, Unite Genet Clin, F-75475 Paris, France

来源：

JOURNAL OF BONE AND MINERAL RESEARCH | 2007年 / 22卷 / 02期

关键词：

Paget's disease; gene/genetic research; population studies;

D O I：

10.1359/JBMR.061106

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mutation screening of the SQSTM1 gene in 94 French patients with PDB revealed two novel point-mutations (A381V and L413F) and two new compound heterozygous genotypes (P392L/A381V and P392L/A390X). Functional analysis showed an increased level of SQSTM1/p62 protein in PDB patients and truncated forms of the protein encoded by the A390X allele. Clinical data indicate that PDB patients with SQSTM1 mutation are younger at PDB diagnosis and have more extensive bone lesions.

引用

页码：310 / 317

页数：8

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