Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis

@article{Barbieri2007TwoNN,
  title={Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis},
  author={Anna Maria Barbieri and Marcello Filopanti and Guido Bua and Paolo Beck-Peccoz},
  journal={Journal of Human Genetics},
  year={2007},
  volume={52},
  pages={464-468}
}
AbstractEctopic periarticular calcifications associated with elevated levels of serum phosphate represent the principal clinical features of hyperphosphatemic familial tumoral calcinosis (HFTC), a rare autosomal recessive metabolic disorder. The disease can be caused by recessive mutations in at least two different genes: GalNAc transferase 3 (GALNT3), encoding a glycosyltransferase that initiates mucin-type O-glycosylation, and fibroblast growth factor 23 (FGF23), which encodes a regulator of… CONTINUE READING