Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis


Yancovitch A., Hershkovitz D., Indelman M., Galloway P., Whiteford M., Sprecher E., ...More

JOURNAL OF BONE AND MINERAL METABOLISM, vol.29, no.5, pp.621-625, 2011 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 5
  • Publication Date: 2011
  • Doi Number: 10.1007/s00774-011-0260-1
  • Title of Journal : JOURNAL OF BONE AND MINERAL METABOLISM
  • Page Numbers: pp.621-625

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.