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Article

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

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2007

Collet Corinne, Michou Laëtitia, Audran Maurice, Chasseigneaux Stéphanie, Hilliquin Pascal, Bardin Thomas, Lemaire Isabelle, Cornélis François, Launay Jean-Marie, Orcel Philippe, Laplanche Jean-Louis

Abstract excerpt

UNLABELLED: 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...

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Identifiers

PMID: 17129171
DOI: 10.1359/jbmr.061106

Genes

SQSTM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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