2. Academic Validation
  3. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

  • Nat Genet. 2004 Jun;36(6):579-81. doi: 10.1038/ng1358.
Orit Topaz 1,  Daniel L Shurman,  Reuven Bergman,  Margarita Indelman,  Paulina Ratajczak,  Mordechai Mizrachi,  Ziad Khamaysi,  Doron Behar,  Dan Petronius,  Vered Friedman,  Israel Zelikovic,  Sharon Raimer,  Arieh Metzker,  Gabriele Richard,  Eli Sprecher
Affiliations

Affiliation

  • 1 Department of Dermatology, Rambam Medical Center, Haifa, Israel.
PMID: 15133511 DOI: 10.1038/ng1358
Abstract

Familial tumoral calcinosis (FTC; OMIM 211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Using linkage analysis, we mapped the gene underlying FTC to 2q24-q31. This region includes the gene GALNT3, which encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation. Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease.

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