ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone

Clinical Genetics
G DivisatoF Gianfrancesco

Abstract

Paget's disease of bone (PDB) is a skeletal disorder whose molecular basis is not fully elucidated. However, 10% of patients show a familial PDB and 35% of them carry mutations in the SQSTM1 gene. We recently reported a founder mutation (p.Pro937Arg) in the ZNF687 gene, underlying PDB complicated by giant cell tumor (GCT/PDB) and rarely occurring in PDB patients without neoplastic degeneration. Since 80% of Italian GCT/PDB patients derive from Avellino, we hypothesized that ZNF687 mutation rate was higher in this region than elsewhere. Interestingly, our molecular analysis on 30 PDB patients showed that 33% hosted ZNF687 mutations, with the p.Pro937Arg identified in 8 familial cases. Two novel ZNF687 mutations (p.Pro665Leu and p.Gln784Glu) were detected in 2 sporadic patients. Only 2 subjects were positive for the p.Pro392Leu mutation in SQSTM1. ZNF687-mutated patients showed a severe PDB, with a remarkable number of affected sites. in vitro studies revealed that the ZNF687-mutant osteoclasts appeared as giant sized with up to 150 nuclei, never described in PDB. Finally, we also confirmed the causality of the p.Pro937Arg mutation in 4 additional GCT/PDB cases deriving from the same geographic area, indicating that PDB and GCT/P...Continue Reading

References

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Citations

Oct 20, 2018·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Haiwen LiLingqiang Zhang
Jan 29, 2020·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Federica Scotto di CarloFernando Gianfrancesco
Feb 28, 2020·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Federica Scotto di CarloFernando Gianfrancesco
Apr 16, 2018·Current Osteoporosis Reports·Raphaël De RidderWim Van Hul
Jun 6, 2020·Cancer Letters·Federica Scotto di CarloFernando Gianfrancesco
Feb 19, 2021·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Zhe WeiHua Yue

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