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

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.

• Authors: 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
• Journal: Oral surgery, oral medicine, oral pathology and oral radiology (Oral Surg Oral Med Oral Pathol Oral Radiol) Vol. 120 Issue 6 Pg. e235-9 (Dec 2015) ISSN: 2212-4411 [Electronic] United States
• PMID: 26337219 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2015 Elsevier Inc. All rights reserved.

Chemical References

• FGF23 protein, human
• Fibroblast Growth Factor-23
• N-Acetylgalactosaminyltransferases
• polypeptide N-acetylgalactosaminyltransferase

Topics

• Adolescent
• Calcinosis (complications, genetics)
• Dentin Dysplasia (etiology)
• Fibroblast Growth Factor-23
• Humans
• Hyperostosis, Cortical, Congenital (complications, genetics)
• Hyperphosphatemia (complications, genetics)
• Male
• Mutation, Missense
• N-Acetylgalactosaminyltransferases (genetics)
• Pedigree
• Phenotype
• Radiography, Panoramic
• Tooth Root (abnormalities)