Title | Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). |
Publication Type | Journal Article |
Year of Publication | 2015 |
Authors | Vieira, AR, Lee, M, Vairo, F, Leite, JCesar Logu, Munerato, MCristina, Visioli, F, D'Ávila, SRodrigues, Wang, S-K, Choi, M, Simmer, JP, Hu, JC-C |
Journal | Oral Surg Oral Med Oral Pathol Oral Radiol |
Volume | 120 |
Issue | 6 |
Pagination | e235-9 |
Date Published | 2015 Dec |
ISSN | 2212-4411 |
Keywords | Adolescent, Calcinosis, Dentin Dysplasia, Humans, Hyperostosis, Cortical, Congenital, Hyperphosphatemia, Male, Mutation, Missense, N-Acetylgalactosaminyltransferases, Pedigree, Phenotype, Radiography, Panoramic, Tooth Root |
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. |
DOI | 10.1016/j.oooo.2015.05.006 |
Alternate Journal | Oral Surg Oral Med Oral Pathol Oral Radiol |
PubMed ID | 26337219 |
PubMed Central ID | PMC4640955 |
Grant List | R01 DE015846 / DE / NIDCR NIH HHS / United States U54 HG006504 / HG / NHGRI NIH HHS / United States DE015846 / DE / NIDCR NIH HHS / United States |