Segregation of a M404V mutation of the p62sequestosome 1 (p62SQSTM1) gene with polyostotic Pagets disease of bone in an Italian family 英文参考文献.docVIP

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Segregation of a M404V mutation of the p62sequestosome 1 (p62SQSTM1) gene with polyostotic Pagets disease of bone in an Italian family 英文参考文献.doc

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Segregation of a M404V mutation of the p62sequestosome 1 (p62SQSTM1) gene with polyostotic Pagets disease of bone in an Italian family 英文参考文献

Available online /content/7/6/R1289 Research article Open Access Vol 7 No 6 Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Pagets disease of bone in an Italian family Alberto Falchetti1, Marco Di Stefano2, Francesca Marini1, Francesca Del Monte1, Alessia Gozzini1, Laura Masi1, Annalisa Tanini1,3, Antonietta Amedei1, Annamaria Carossino1, Giancarlo Isaia2 and Maria Luisa Brandi1,3 1Department of Internal Medicine, University of Florence, Florence, Italy 2Department of Internal Medicine, University of Turin, Turin, Italy 3DeGene Spin-off, University of Florence, Florence, Italy Corresponding author: Maria Luisa Brandi, m.brandi@dmi.unifi.it Received: 30 Mar 2005 Revisions requested: 3 May 2005 Revisions received: 1 Aug 2005 Accepted: 24 Aug 2005 Published: 15 Sep 2005 Arthritis Research Therapy 2005, 7:R1289-R1295 (DOI 10.1186/ar1828) This article is online at: /content/7/6/R1289 ? 2005 Falchetti et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (/licenses/by/ 2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Mutations of the p62/Sequestosome 1 gene (p62/SQSTM1) account for both sporadic and familial forms of Pagets disease of bone (PDB). We originally described a methionine→valine substitution at codon 404 (M404V) of exon 8, in the ubiquitin protein-binding domain of p62/SQSTM1 gene in an Italian PDB patient. The collection of data from the patients pedigree provided evidence for a familial form of PDB. Extension of the genetic analysis to other relatives in this family demonstrated segregation of the M404V mutation with the polyostotic PDB phenotype and provided the identification of six asymptomatic gene carriers. DNA for mutational analysis of the exon 8 coding sequence was obtained from 22 subjects,