title: Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).
abstract: Familial tumoral calcinosis (TC) is a rare disorder distinguished by the development of ectopic and vascular calcified masses that occur in settings of hyperphosphatemia (hFTC) and normophosphatemia (nFTC). Serum phosphorus concentrations are relatively tightly controlled by interconnected endocrine activity at the level of the intestine, kidney, and skeleton. Discovering the molecular causes for heritable forms of hFTC has shed new light on the regulation of serum phosphate balance. This review will focus upon the genetic basis and clinical approaches for hFTC, due to genes that are related to the phosphaturic hormone fibroblast growth factor-23 (FGF23). These include FGF23 itself, an FGF23-glycosylating enzyme (GALNT3), and the FGF23 co-receptor α-Klotho (αKL). Our understanding of the molecular basis of hFTC will, in the short term, aid in understanding normal phosphate balance, and in the future, provide potential insight into the design of novel therapeutic strategies for both rare and common disorders of phosphate metabolism.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN 46202, USA.
authors.forename: Emily G
authors.initials: EG
authors.lastname: Farrow
authors.forename: Erik A
authors.initials: EA
authors.lastname: Imel
authors.forename: Kenneth E
authors.initials: KE
authors.lastname: White
mesh_terms: D002114:Calcinosis / Q000235:genetics* / Q000628:therapy; D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors / Q000235:genetics*; D005966:Glucuronidase / Q000235:genetics*; D006801:Humans; D017674:Hypophosphatemia / Q000235:genetics*; D000090265:Klotho Proteins; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D010710:Phosphates / Q000097:blood; D000097763:Polypeptide N-acetylgalactosaminyltransferase
chemical_list: D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors; D005966:Glucuronidase; D000090265:Klotho Proteins; D017350:N-Acetylgalactosaminyltransferases; D010710:Phosphates; D000097763:Polypeptide N-acetylgalactosaminyltransferase; C000717427:FGF23 protein, human