title: Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.
abstract: Hyperphosphatemic familial tumoral calcinosis (HFTC) is known to be caused by mutations in at least three genes: FGF23, GALNT3 and KL. Two families with two affected members suffering from HFTC were scrutinized for mutations in these candidate genes. We identified in both families homozygous missense mutations affecting highly conserved amino acids in GALNT3. One of the mutations is a novel mutation, whereas the second mutation was reported before in a compound heterozygous state. Our data expand the spectrum of known mutations in GALNT3 and contribute to a better understanding of the phenotypic manifestations of mutations in this gene.
authors.affiliation: Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
authors.forename: Alan
authors.initials: A
authors.lastname: Yancovitch
authors.forename: Dov
authors.initials: D
authors.lastname: Hershkovitz
authors.forename: Margareta
authors.initials: M
authors.lastname: Indelman
authors.forename: Peter
authors.initials: P
authors.lastname: Galloway
authors.forename: Margo
authors.initials: M
authors.lastname: Whiteford
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
authors.forename: Esra
authors.initials: E
authors.lastname: Kılıç
mesh_terms: D000328:Adult; D002114:Calcinosis / Q000235:genetics*; D005260:Female; D000089703:Fibroblast Growth Factor-23; D006801:Humans; D017674:Hypophosphatemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D055815:Young Adult; D000097763:Polypeptide N-acetylgalactosaminyltransferase
chemical_list: D000089703:Fibroblast Growth Factor-23; D017350:N-Acetylgalactosaminyltransferases; D000097763:Polypeptide N-acetylgalactosaminyltransferase; C000717427:FGF23 protein, human