Article
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.
BMC medical genomics - 3 Mar 2022
Dessay Mariam, Couture Emile, Maaroufi Halim, Fournier Frédéric, Gagnon Edith, Droit Arnaud, Brown Jacques P, Michou Laëtitia
Abstract excerpt
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.Pro392Leu mutation and at characterizing its impact on the clinical and cellular phenotypes of PDB. METHODS: Whole exome sequencing was performed in one patient per...
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