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

Orit Topaz, 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

Research output: Contribution to journalArticle

392 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)579-581
Number of pages3
JournalNature Genetics
Volume36
Issue number6
DOIs
StatePublished - Jun 1 2004

ASJC Scopus subject areas

  • Genetics

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    Topaz, O., Shurman, D. L., Bergman, R., Indelman, M., Ratajczak, P., Mizrachi, M., Khamaysi, Z., Behar, D., Petronius, D., Friedman, V., Zelikovic, I., Raimer, S., Metzker, A., Richard, G., & Sprecher, E. (2004). Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nature Genetics, 36(6), 579-581. https://doi.org/10.1038/ng1358