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Scandinavian Journal of Rheumatology Volume 44, 2015 - Issue 2
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Letters

GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis

D El DemellawyUniversity of Ottawa, Ottawa, ON, Canada;Department of Paediatric Pathology, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada;Northern Ontario School of Medicine, Greater Sudbury, Ottawa, ON, CanadaCorrespondence[email protected]
,
N ChangUniversity of Ottawa, Ottawa, ON, Canada;Department of Pathology and Laboratory Medicine, The Ottawa Hospital, Ottawa, ON, Canada
,
J de NanassyUniversity of Ottawa, Ottawa, ON, Canada;Department of Paediatric Pathology, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada
&
A NasrUniversity of Ottawa, Ottawa, ON, Canada;Department of Paediatric Surgery, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada
Pages 170-172 | Accepted 21 Aug 2014, Published online: 29 Oct 2014

References

  • Yancovitch A, Hershkovitz D, Indelman M, Galloway P, Whiteford M, Sprecher E, et al. Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. J Bone Miner Metab 2011;29:621–5.
  • Liu S, Quarles LD. How fibroblast growth factor 23 works. J Am Soc Nephrol 2007;18:1637–47.
  • Fukumoto S. Physiological regulation and disorders of phosphate metabolism – pivotal role of fibroblast growth factor 23. Intern Med 2008;47:337–43.
  • Urakawa I, Yamazaki Y, Shimada T, Iijima K, Hasegawa H, Okawa K, et al. Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature 2006;444:770–4.
  • Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 2004;36:579–81.
  • Kato K, Jeanneau C, Tarp MA, Benet-Pagès A, Lorenz-Depiereux B, Bennett EP, et al. Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem 2006;281:18370–7.
  • Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, et al. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A 2010;152A:896–903.
  • Maus U, Ihme N, Schroeder S, Andereya S, Ohnsorge JA, Hermanns B, et al. Chronic recurrent multifocal osteomyelitis and tumoral calcinosis – is there an association? [in German] Klin Padiatr 2007;219:277–81.
  • Majeed SA. Chronic recurrent multifocal osteomyelitis associated with tumoral calcinosis. J Bone Joint Surg Br 1994; 76:325–7.

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