Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis

Alan Yancovitch, Dov Hershkovitz, Margareta Indelman, Peter Galloway, Margo Whiteford, Eli Sprecher, Esra Kiliç

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

Hyperphosphatemic familial tumoral calcinosis (HFTC) is known to be caused by mutations in at least three genes: FGF23, GALNT3 and KL. Two families with two affected members suffering from HFTC were scrutinized for mutations in these candidate genes. We identified in both families homozygous missense mutations affecting highly conserved amino acids in GALNT3. One of the mutations is a novel mutation, whereas the second mutation was reported before in a compound heterozygous state. Our data expand the spectrum of known mutations in GALNT3 and contribute to a better understanding of the phenotypic manifestations of mutations in this gene.

Original languageEnglish (US)
Pages (from-to)621-625
Number of pages5
JournalJournal of Bone and Mineral Metabolism
Volume29
Issue number5
DOIs
StatePublished - Sep 1 2011
Externally publishedYes

Keywords

  • Extraosseous calcification
  • GALNT3
  • Hyperphosphatemic familial tumoral calcinosis
  • Mutation

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Orthopedics and Sports Medicine
  • Endocrinology

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    Yancovitch, A., Hershkovitz, D., Indelman, M., Galloway, P., Whiteford, M., Sprecher, E., & Kiliç, E. (2011). Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. Journal of Bone and Mineral Metabolism, 29(5), 621-625. https://doi.org/10.1007/s00774-011-0260-1