Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis.

@article{Bergwitz2009DefectiveOD,
  title={Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis.},
  author={Clemens Bergwitz and Santanu Banerjee and Hilal S Abu-Zahra and Hiroshi Kaji and Akimitsu Miyauchi and Toshitsugu Sugimoto and Harald W Jueppner},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2009},
  volume={94 11},
  pages={4267-74}
}
BACKGROUND Homozygous mutations in fibroblast growth factor (FGF23) have recently been described as the genetic cause of one form of hyperphosphatemic tumoral calcinosis (HFTC). However, it remained unclear to date how these mutations lead to loss of biologically active FGF23 in the circulation. METHODS We here report a novel homozygous mutation, c.385T>C in FGF23 exon 2, which changes codon 129 from serine to proline (S129P) in a previously described individual affected by HFTC. The S129P… CONTINUE READING

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