| Literature DB >> 15133511 |
Orit Topaz1, 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.
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.Entities:
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Year: 2004 PMID： 15133511 DOI： 10.1038/ng1358
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330