A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis

Journal:
American Journal of Human Genetics, 79:759-764, 2006.
Authors:

Orit Topaz, Margarita Indelman, Ilana Chefetz, Dan Geiger, Aryeh Metzker, Yoram Altschuler, Mordechai Choder, Dani Bercovich, Jouni Uitto, Reuven Bergman, Gabriele Richard, and Eli Sprecher

From the Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus (O.T.; M.I.; I.C.; R.B.; E.S.), and Faculty of Medicine (O.T.; I.C.; M.C.; R.B.; E.S.), Computer Sciences Department (D.G.), and Rappaport Institute for Research in the Medical Sciences, Technion (E.S.), Israel Institute of Technology, Haifa; Department of Dermatology, Souraski Medical Center, Tel Aviv (A.M.); Department of Pharmacology, School of Pharmacy, Hebrew University, Jerusalem (Y.A.); Human Molecular Genetics & Pharmacogenetics, Migal-Galilee Technology Center, Kiryat-Shmona, Israel (D.B.); Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia (J.U.; G.R.); and GeneDx, Gaithersburg, MD (G.R.)

Abstract

Familial tumoral calcinosis (FTC) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, which results in painful ulcerative lesions and severe skin and bone infections. Two major types of FTC have been recognized: hyperphosphatemic FTC (HFTC) and normophosphatemic FTC (NFTC)…….more…..

(C) American Journal of Human Genetics.

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