caa a22 4500 605521506 CHVBK 20210128100740.0 cr unu---uuuuu 210128e20150501xx s 000 0 eng 10.1007/s00223-015-9974-8 doi (NATIONALLICENCE)springer-10.1007/s00223-015-9974-8 Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization [Elektronische Daten] [L. Masi, G. Beltrami, S. Ottanelli, F. Franceschelli, A. Gozzini, R. Zonefrati, G. Galli, S. Ciuffi, C. Mavilia, F. Giusti, G. Marcucci, F. Cioppi, E. Colli, C. Fossi, A. Franchi, C. Casentini, R. Capanna, Maria Brandi] Human disorders of phosphate (Pi) handling and skeletal mineralization represent a group of rare bone diseases. One of these disease is tumoral calcinosis (TC). In this study, we present the case of a patient with TC with a new GALNT3 gene mutation. We also performed functional studies using an in vitro cellular model. Genomic DNA was extracted from peripheral blood collected from a teenage Caucasian girl affected by TC, and from her parents. A higher capability to form mineralization nodules in vitro was found in human preosteoblastic cells of mutant when compared to wild-type controls. We found a novel homozygous inactivating splice site mutation in intron I (c.516-2a>g). A higher capability to form mineralization nodules in vitro was found in the mutant cells in human preosteoblastic cells when compared to wild-type controls. Understanding the functional significance and molecular physiology of this novel mutation will help to define the role of FGF23 in the control of Pi homeostasis in normal and in pathological conditions. Springer Science+Business Media New York, 2015 Tumoral calcinosis nationallicence Phosphatonin nationallicence Extra Skeletal calcification nationallicence Masi L. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut Beltrami G. Department of Orthopedics, Oncologic Unit AOUC-Careggi Hospital, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut Ottanelli S. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut Franceschelli F. Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy aut Gozzini A. Genetics Unit AOUC-Careggi, Department of Genetics, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy aut Zonefrati R. Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy aut Galli G. Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy aut Ciuffi S. Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy aut Mavilia C. Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy aut Giusti F. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut Marcucci G. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut Cioppi F. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut Colli E. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut Fossi C. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut Franchi A. Section of Anatomic Pathology, Department of Surgery and Translational Medicine, University of Florence, Viale Morgagni, 50134, Florence, Italy aut Casentini C. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut Capanna R. Department of Orthopedics, Oncologic Unit AOUC-Careggi Hospital, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut Brandi Maria Department of Surgery and Translational Medicine, Metabolic Bone Diseases Unit AOUC-Careggi Hospital, University of Florence, Largo Palagi, 1 II Floor, 50134, Florence, Italy aut Calcified Tissue International Springer US; http://www.springer-ny.com 96/5(2015-05-01), 438-452 0171-967X 96:5<438 2015 96 223 https://doi.org/10.1007/s00223-015-9974-8 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00223-015-9974-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Masi L. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Beltrami G. Department of Orthopedics, Oncologic Unit AOUC-Careggi Hospital, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Ottanelli S. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Franceschelli F. Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Gozzini A. Genetics Unit AOUC-Careggi, Department of Genetics, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Zonefrati R. Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Galli G. Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Ciuffi S. Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Mavilia C. Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Giusti F. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Marcucci G. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Cioppi F. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Colli E. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Fossi C. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Franchi A. Section of Anatomic Pathology, Department of Surgery and Translational Medicine, University of Florence, Viale Morgagni, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Casentini C. Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Capanna R. Department of Orthopedics, Oncologic Unit AOUC-Careggi Hospital, University of Florence, Largo Palagi, 1, 50134, Florence, Italy aut NATIONALLICENCE 700 1- Brandi Maria Department of Surgery and Translational Medicine, Metabolic Bone Diseases Unit AOUC-Careggi Hospital, University of Florence, Largo Palagi, 1 II Floor, 50134, Florence, Italy aut NATIONALLICENCE 773 0- Calcified Tissue International Springer US; http://www.springer-ny.com 96/5(2015-05-01), 438-452 0171-967X 96:5<438 2015 96 223