Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp120 | Calciotropic and phosphotropic hormones and mineral metabolism | ECTS2013

Interaction between FGF23 R176W mutation and C716T nonsynonymous change (T239M, rs7955866) in FGF23 on the clinical phenotype in a family with autosomal dominant hypophosphatemic rickets

Merlotti Daniela , Rendina Domenico , Gennari Luigi , Esposito Teresa , Magliocca Sara , De Filippo Gianpaolo , Strazzullo Pasquale , Nuti Ranuccio , Gianfrancesco Fernando

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary disorder characterized by isolate renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25(OH)2D3 levels. ADHR is caused by mutations in FGF23 protein that actively regulates phosphate homeostasis. In contrast to X-linked dominant hypophosphatemic rickets, ADHR shows incomplete penetrance, variable age at onset, and in rare cases resolution of the phosphate-wasting defect...

ba0001pp477 | Other diseases of bone and mineral metabolism | ECTS2013

A OPTN variant (rs1561570) interacts with TNFRSF11A polymorphism (rs1805034) on the clinical phenotype of sporadic Paget's disease of bone

Merlotti Daniela , Gennari Luigi , Gianfrancesco Fernando , Rendina Domenico , Stefano Marco Di , Esposito Teresa , Divisato Giuseppina , Morello Giovanna , Muscariello Riccardo , Isaia Giancarlo , Strazzullo Pasquale , Nuti Ranuccio

Despite mutations in SQSTM1 gene have been detected in up to 50% of patients with familial Paget’s disease of bone (PDB), their prevalence is low in sporadic PDB, likely due to the presence of additional predisposition genes. Recently, at least seven genes were associated with PDB in genome-wide-association studies, including polymorphic variation in OPTN,encoding for optineurin. In particular, a single OPTN variant (rs1561570) was highly associated with...

ba0003pp186 | Genetics | ECTS2014

Pharmacogenomics of bisphosphonate treatment in Paget's disease of bone: retrospective and prospective analysis

Merlotti Daniela , Gianfrancesco Fernando , Rendina Domenico , Muscariello Riccardo , Esposito Teresa , Franci Maria Beatrice , Lucani Barbara , Campagna Maria Stella , Cresti Laura , Strazzullo Pasquale , Nuti Ranuccio , Gennari Luigi

We previously evidenced a reduced response to i.v. pamidronate in Q15STM1 mutation carriers (Q15STM1+) with Paget’s disease of bone (PDB). In order to confirm and extend this observation, we investigated the effect of Q15STM1 mutation and polymorphisms in three genes associated with PDB (TNFRSF11A; OPTN; TNFRSF11B) on the response to bisphosphonates. First, a retrospective study was performed in 335 patients treated wi...

ba0005p103 | Cancer and bone: basic, translational and clinical | ECTS2016

Conventional and Pagetic Giant Cell Tumor of bone: distinct clinical features are defined by different genetic background and histological appearance

Divisato Giuseppina , di Carlo Federica Scotto , Esposito Teresa , Pazzaglia Laura , Benassi Maria Serena , Merlotti Daniela , Rendina Domenico , Gennari Luigi , Gianfrancesco Fernando

Conventional Giant Cell Tumor of Bone (GCT) is an aggressive bone tumor characterized by malignant mesenchymal stromal cells, responsible for its unusually high population of multinucleated osteoclast-like giant cells. GCT could arise in bones affected by Paget’s disease of bone (GCT/PDB) with a different clinical profile regarding the age-onset of the neoplasm (30 years vs 50 years) and the skeletal localization (appendicular skeleton vs cranio-facial bones), let hyphote...