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- Title
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
- Authors
Topaz, Orit; Shurman, Daniel L.; Bergman, Reuven; Indelman, Margarita; Ratajczak, Paulina; Mizrachi, Mordechai; Khamaysi, Ziad; Behar, Doron; Petronius, Dan; Friedman, Vered; Zelikovic, Israel; Raimer, Sharon; Metzker, Arieh; Richard, Gabriele; Sprecher, Eli
- 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.
- Subjects
GENETIC mutation; GENES; PROTEINS; GLYCOSYLATION; GENETIC disorders; FAMILIAL diseases; METABOLIC disorders
- Publication
Nature Genetics, 2004, Vol 36, Issue 6, p579
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng1358