NDLI: Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

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Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Ichikawa, Shoji Baujat, Geneviève Seyahi, Aksel Garoufali, Anastasia G. Imel, Erik A. Padgett, Leah R. Austin, Anthony M. Sorenson, Andrea H. Pejin, Zagorka Topouchian, Vicken Quartier, Pierre Cormier-Daire, Valerie Dechaux, Michele Malandrinou, Fotini Ch Singhellakis, Panagiotis N. Le Merrer, Martine Econs, Michael J.
Description	Country affiliation: United States Author Affiliation: Ichikawa S ( Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA. ichikawa@iupui.edu)
Abstract	The GALNT3 gene encodes GalNAc-T3, which prevents degradation of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Biallelic mutations in either GALNT3 or FGF23 result in hyperphosphatemic familial tumoral calcinosis or its variant, hyperostosis-hyperphosphatemia syndrome. Tumoral calcinosis is characterized by the presence of ectopic calcifications around major joints, whereas hyperostosis-hyperphosphatemia syndrome is characterized by recurrent long bone lesions with hyperostosis. Here we investigated four patients with hyperphosphatemia and clinical manifestations including tumoral calcinosis and/or hyperostosis-hyperphosphatemia syndrome to determine underlying genetic cause and delineate phenotypic heterogeneity of these disorders. Mutational analysis of FGF23 and GALNT3 in these patients revealed novel homozygous mutations in GALNT3. Although the presence of massive calcifications, cortical hyperostosis, or dental anomalies was not shared by all patients, all had persistent hyperphosphatemia. Three of the patients also had inappropriately normal 1,25-dihyroxyvitamin D [1,25(OH)(2)D] and confirmed low circulating intact FGF23 concentrations. The four novel GALNT3 mutations invariably resulted in hyperphosphatemia as a result of low intact FGF23, but other clinical manifestations were variable. Therefore, tumoral calcinosis and hyperostosis-hyperphosphatemia syndrome represent a continuous spectrum of the same disease caused by increased phosphate levels, rather than two distinct disorders.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.33337
Journal	American Journal of Medical Genetics Part A
Issue Number	4
Volume Number	152A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-04-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Calcinosis Enzymology Genetics Mutation N-acetylgalactosaminyltransferases Neoplasms Adolescent Complications Child, Preschool Dna Mutational Analysis Molecular Sequence Data Radiography Research Support, N.i.h., Extramural
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

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