Attenuated clinical and osteoclastic phenotypes of Paget's disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene.

Background: We identified two families with Paget's disease of bone (PDB) linked to the p.Pro392Leu mutation within the SQSTM1 gene displaying a possible digenism. This study aimed at identifying this second genetic variant cosegregating with the p.

Clinical phenotype of adult offspring carriers of the p.Pro392Leu mutation within the gene in Paget's disease of bone.

Paget's disease of bone (PDB) is a common chronic bone disorder. In the French-Canadian population, the p.Pro392Leu mutation within the gene is involved in 46% of familial forms.

Gene-environment interactions in Paget's disease of bone.

Objectives: This study explored the role of outdoor and indoor air pollutants in Paget's disease of bone (PDB).

Methods: We performed a survey in 140 French-Canadian patients with PDB, including 39 carriers of p.Pro392Leu mutation (SQSTM1 gene) and 113 healthy not mutated controls.