Sequestosome 1: Mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone

被引：96

作者：

Morissette, Jean

Laurin, Nancy

Brown, Jacques P.

机构：

[1] CHU Laval, Grp Rech Malad Osseuses, Ctr Rech Rhumatol & Immunol, Ctr Rech, Quebec City, PQ G1V 4G2, Canada

[2] Univ Laval, Ctr Rech, Ctr Hosp, Ctr Rech Endocrinol Mol & Oncol, Quebec City, PQ, Canada

[3] Univ Hlth Network, Toronto Western Res Inst, Cell & Mol Biol Div, Toronto, ON, Canada

来源：

JOURNAL OF BONE AND MINERAL RESEARCH | 2006年 / 21卷

关键词：

Paget's disease of bone; sequestosome1/p62; genetics; phenotype; penetrance;

D O I：

10.1359/JBMR.06S207

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mutations of the SQSTM1/p62 gene are commonly observed in PDB. Screening an updated sample from Quebec and using previously published data from other populations, we compared frequency estimates for SQSTM1/p62 mutations and haplotype distribution. The P392L mutation was the most prevalent, embedded in two different haplotypes, possibly shared by other populations. We also examined the phenotype and penetrance of P392L.

引用

页码：P38 / P44

页数：7

共 42 条

[1] THE EPIDEMIOLOGY OF PAGETS-DISEASE OF BONE [J].

BARKER, DJP .

BRITISH MEDICAL BULLETIN, 1984, 40 (04) :396-400

[2] Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease [J].

Beyens, G ;

Van Hul, E ;

Van Driessche, K ;

Fransen, E ;

Devogelaer, JP ;

Vanhoenacker, F ;

Van Offel, J ;

Verbruggen, L ;

De Clerck, L ;

Westhovens, R ;

Van Hul, W .

CALCIFIED TISSUE INTERNATIONAL, 2004, 75 (02) :144-152

[3] Modulation of non-templated nucleotide addition by taq DNA polymerase: Primer modifications that facilitate genotyping [J].

Brownstein, MJ ;

Carpten, JD ;

Smith, JR .

BIOTECHNIQUES, 1996, 20 (06) :1004-+

[4] Genetic linkage of Paget disease of the bone to chromosome 18q [J].

Cody, JD ;

Singer, FR ;

Roodman, GD ;

Otterund, B ;

Lewis, TB ;

Leppert, M ;

Leach, RJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (05) :1117-1122

[5] The epidemiology of Paget's disease in Britain: Is the prevalence decreasing? [J].

Cooper, C ;

Schafheutle, K ;

Dennison, E ;

Kellingray, S ;

Guyer, P ;

Barker, D .

JOURNAL OF BONE AND MINERAL RESEARCH, 1999, 14 (02) :192-197

[6] Epidemiology of Paget's disease of bone [J].

Cooper, C ;

Dennison, E ;

Schafheutle, K ;

Kellingray, S ;

Guyer, P ;

Barker, D .

BONE, 1999, 24 (05) :3S-5S

[7] EUROPEAN DISTRIBUTION OF PAGETS-DISEASE OF BONE [J].

DETHERIDGE, FM ;

GUYER, PB ;

BARKER, DJP .

BRITISH MEDICAL JOURNAL, 1982, 285 (6347) :1005-1008

[8] A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].

Dib, C ;

Faure, S ;

Fizames, C ;

Samson, D ;

Drouot, N ;

Vignal, A ;

Millasseau, P ;

Marc, S ;

Hazan, J ;

Seboun, E ;

Lathrop, M ;

Gyapay, G ;

Morissette, J ;

Weissenbach, J .

NATURE, 1996, 380 (6570) :152-154

[9] The atypical PKC-interacting protein p62 is an important mediator of RANK-activated osteoclastogenesis [J].

Durán, A ;

Serrano, M ;

Leitges, M ;

Flores, JM ;

Picard, S ;

Brown, JP ;

Moscat, J ;

Diaz-Meco, MT .

DEVELOPMENTAL CELL, 2004, 6 (02) :303-309

[10] Familial Paget's disease in The Netherlands - Occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations [J].

Eekhoff, EWM ;

Karperien, M ;

Houtsma, D ;

Zwinderman, AH ;

Dragoiescu, C ;

Kneppers, ALJ ;

Papapoulos, SE .

ARTHRITIS AND RHEUMATISM, 2004, 50 (05) :1650-1654

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