A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

作者：Chefetz I; Heller R; Galli Tsinopoulou A; Richard G; Wollnik B; Indelman M; Koerber F; Topaz O; Bergman R; Sprecher E^*; Schoenau E

来源：Human Genetics, 2005, 118(2): 261-266.

DOI：10.1007/s00439-005-0026-8

• calcinosis
• FGF23
• GALNT3
• phosphate
• mutation
• extraskeletal

Hyperphosphatemic Familial Tumoral Calcinosis (HFTC; MIM211900) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, associated with elevated circulating levels of phosphate. The disease was initially found to result from mutations in GALNT3 encoding a glycosyltransferase. However, more recently, the S71G missense mutation in FGF23, encoding a potent phosphaturic protein, was identified in two families. In the present report, we describe a second mutation in FGF23 underlying a severe case displaying calcifications of cutaneous and numerous extracutaneous tissues. The mutation (M96T) was found to affect a highly conserved methionine residue at position 96 of the protein. These observations illustrate the extent of genetic and phenotypic heterogeneity in HFTC.

• 出版日期2005-11