Human Genetics

, 118:261

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

  • Ilana Chefetz
  • Raoul Heller
  • Assimina Galli-Tsinopoulou
  • Gabriele Richard
  • Bernd Wollnik
  • Margarita Indelman
  • Friederike Koerber
  • Orit Topaz
  • Reuven Bergman
  • Eli Sprecher
  • Eckhard Schoenau
Original Investigation

DOI: 10.1007/s00439-005-0026-8

Cite this article as:
Chefetz, I., Heller, R., Galli-Tsinopoulou, A. et al. Hum Genet (2005) 118: 261. doi:10.1007/s00439-005-0026-8

Abstract

Hyperphosphatemic Familial Tumoral Calcinosis (HFTC; MIM211900) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, associated with elevated circulating levels of phosphate. The disease was initially found to result from mutations in GALNT3 encoding a glycosyltransferase. However, more recently, the S71G missense mutation in FGF23, encoding a potent phosphaturic protein, was identified in two families. In the present report, we describe a second mutation in FGF23 underlying a severe case displaying calcifications of cutaneous and numerous extracutaneous tissues. The mutation (M96T) was found to affect a highly conserved methionine residue at position 96 of the protein. These observations illustrate the extent of genetic and phenotypic heterogeneity in HFTC.

Key words

Calcinosis FGF23 GALNT3 Phosphate Mutation Extraskeletal 

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Ilana Chefetz
    • 1
    • 2
  • Raoul Heller
    • 3
  • Assimina Galli-Tsinopoulou
    • 5
  • Gabriele Richard
    • 6
  • Bernd Wollnik
    • 3
    • 4
  • Margarita Indelman
    • 1
  • Friederike Koerber
    • 7
  • Orit Topaz
    • 1
    • 2
  • Reuven Bergman
    • 1
    • 2
  • Eli Sprecher
    • 1
    • 2
  • Eckhard Schoenau
    • 8
  1. 1.Department of Dermatology and Laboratory of Molecular DermatologyRambam Medical CenterHaifaIsrael
  2. 2.Bruce Rappaport Faculty of MedicineTechnion–Israel Institute of technologyHaifaIsrael
  3. 3.Institute of Human GeneticsUniversity of Cologne Germany
  4. 4.Center for Molecular Medicine Cologne (CMMC)University of Cologne Germany
  5. 5.Fourth Department of Pediatrics, Medical School of AristotleUniversity of Thessaloniki, Hospital PapageorgiouThessalonikiGreece
  6. 6.Department of Dermatology and Cutaneous BiologyThomas Jefferson UniversityPhiladelphiaUSA
  7. 7.Department of Pediatric RadiologyChildren’s Hospital, University of Cologne Germany
  8. 8.Department of Pediatric EndocrinologyChildren’s Hospital, University of Cologne Germany

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