title: Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
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.
authors.affiliation: Department of Dermatology, Rambam Medical Center, Haifa, Israel.
authors.forename: Orit
authors.initials: O
authors.lastname: Topaz
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Shurman
authors.forename: Reuven
authors.initials: R
authors.lastname: Bergman
authors.forename: Margarita
authors.initials: M
authors.lastname: Indelman
authors.forename: Paulina
authors.initials: P
authors.lastname: Ratajczak
authors.forename: Mordechai
authors.initials: M
authors.lastname: Mizrachi
authors.forename: Ziad
authors.initials: Z
authors.lastname: Khamaysi
authors.forename: Doron
authors.initials: D
authors.lastname: Behar
authors.forename: Dan
authors.initials: D
authors.lastname: Petronius
authors.forename: Vered
authors.initials: V
authors.lastname: Friedman
authors.forename: Israel
authors.initials: I
authors.lastname: Zelikovic
authors.forename: Sharon
authors.initials: S
authors.lastname: Raimer
authors.forename: Arieh
authors.initials: A
authors.lastname: Metzker
authors.forename: Gabriele
authors.initials: G
authors.lastname: Richard
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D001483:Base Sequence; D002114:Calcinosis / Q000235:genetics* / Q000378:metabolism; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D015870:Gene Expression; D005808:Genes, Recessive; D006031:Glycosylation; D006801:Humans; D008297:Male; D009077:Mucins / Q000737:chemistry / Q000378:metabolism; D009154:Mutation; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics* / Q000378:metabolism; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D011499:Protein Processing, Post-Translational; D000097763:Polypeptide N-acetylgalactosaminyltransferase
chemical_list: D004247:DNA; D009077:Mucins; D017350:N-Acetylgalactosaminyltransferases; D009363:Neoplasm Proteins; D000097763:Polypeptide N-acetylgalactosaminyltransferase