Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC)

Alexandre R. Vieira, Moses Lee, Filippo Vairo, Julio Cesar Loguercio Leite, Maria Cristina Munerato, Fernanda Visioli, Stéphanie Rodrigues D'Ávila, Shih Kai Wang, Murim Choi, James P. Simmer, Jan C.C. Hu

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Hyperphosphatemic familial tumoral calcinosis (HFTC, OMIM #211900) is an autosomal recessive metabolic disorder characterized by hyperphosphatemia, tooth root defects, and the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone.1 In this HFTC case report, we document the dental phenotype associated with a homozygous missense mutation (g.29077 C>T; c.484 C>T; p.Arg162∗) in GALNT3 (OMIM 6017563), a gene encoding UDP-GalNAc transferase 3 that catalyzes the first step of O-linked oligosaccharide biosynthesis in the Golgi. The medical and dental pathology is believed to be caused primarily by high serum phosphate levels (hyperphosphatemia), which, in turn, is caused by failure of GALNT3 to glycosylate the phosphate regulator protein FGF23, impairing its ability inhibit reabsorption of filtered phosphate in the kidneys.

Original languageEnglish (US)
Pages (from-to)e235-e239
JournalOral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Volume120
Issue number6
DOIs
StatePublished - Dec 2015

ASJC Scopus subject areas

  • Surgery
  • Oral Surgery
  • Pathology and Forensic Medicine
  • Dentistry (miscellaneous)
  • Radiology Nuclear Medicine and imaging

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