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

@article{Collet2007PagetsDO,
  title={Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.},
  author={Corinne Collet and La{\"e}titia Michou and Maurice Audran and St{\'e}phanie Chasseigneaux and Pascal Hilliquin and Thomas Bardin and Isabelle Lemaire and François Corn{\'e}lis and J. -F. Launay and Philippe Orcel and J L Laplanche},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={2007},
  volume={22 2},
  pages={310-7}
}
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 mutation are younger at PDB diagnosis and have more extensive bone lesions. INTRODUCTION… CONTINUE READING

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