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Calcified Tissue International
Published in: Calcified Tissue International 5/2015

01-05-2015 | Original Research

Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization

Authors: 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 Luisa Brandi

Published in: Calcified Tissue International | Issue 5/2015

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Abstract

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.
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Metadata
Title
Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization
Authors
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 Luisa Brandi
Publication date
01-05-2015
Publisher
Springer US
Published in
Calcified Tissue International / Issue 5/2015
Print ISSN: 0171-967X
Electronic ISSN: 1432-0827
DOI
https://doi.org/10.1007/s00223-015-9974-8

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