Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor

Paget disease of bone (PDB) is a skeletal disorder characterized by focal abnormalities of bone remodeling, which result in enlarged and deformed bones in one or more regions of the skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone (GCT). We performed whole-exome sequencing in a large family with 14 PDB-affected members, four of whom developed GCT at multiple pagetic skeletal sites, and we identified the c.2810C>G (p.Pro937Arg) missense mutation in the zinc finger protein 687 gene (ZNF687).

Source: The American Journal of Human Genetics - February 4, 2016 Category: Genetics & Stem Cells Authors: Giuseppina Divisato, Daniela Formicola, Teresa Esposito, Daniela Merlotti, Laura Pazzaglia, Andrea Del Fattore, Ethel Siris, Philippe Orcel, Jacques P. Brown, Ranuccio Nuti, Pasquale Strazzullo, Maria Serena Benassi, M. Leonor Cancela, Laetitia Michou Tags: Article Source Type: research