A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification |
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| Authors: | Ilana Chefetz Raoul Heller Assimina Galli-Tsinopoulou Gabriele Richard Bernd Wollnik Margarita Indelman Friederike Koerber Orit Topaz Reuven Bergman Eli Sprecher Eckhard Schoenau |
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| Affiliation: | (1) Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, 9602, Haifa, Israel;(2) Bruce Rappaport Faculty of Medicine, Technion–Israel Institute of technology, Haifa, Israel;(3) Institute of Human Genetics, University of Cologne, , Germany;(4) Center for Molecular Medicine Cologne (CMMC), University of Cologne, , Germany;(5) Fourth Department of Pediatrics, Medical School of Aristotle, University of Thessaloniki, Hospital Papageorgiou, Thessaloniki, Greece;(6) Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, USA;(7) Department of Pediatric Radiology, Children’s Hospital, University of Cologne, , Germany;(8) Department of Pediatric Endocrinology, Children’s Hospital, University of Cologne, , Germany |
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| 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. |
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| Keywords: | Calcinosis FGF23 GALNT3 Phosphate Mutation Extraskeletal |
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