TY - JOUR
T1 - Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC)
AU - Vieira, Alexandre R.
AU - Lee, Moses
AU - Vairo, Filippo
AU - Loguercio Leite, Julio Cesar
AU - Munerato, Maria Cristina
AU - Visioli, Fernanda
AU - D'Ávila, Stéphanie Rodrigues
AU - Wang, Shih Kai
AU - Choi, Murim
AU - Simmer, James P.
AU - Hu, Jan C.C.
N1 - Funding Information:
This study was supported by NIDCR/NIH research grant DE015846 and by grants from the Bio & Medical Technology Development Program (2011-0027790), the Science Research Center grant to Bone Metabolism Research Center (2012-0000487) by the Korea Research Foundation Grant funded by the Korean Government (MEST), and the Yale Center for Mendelian Genomics (NIH U54 HG006504). The funding sources had no involvement in the study or its publication.
Publisher Copyright:
© 2015 Elsevier Inc.
PY - 2015/12
Y1 - 2015/12
N2 - 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.
AB - 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.
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U2 - 10.1016/j.oooo.2015.05.006
DO - 10.1016/j.oooo.2015.05.006
M3 - Article
C2 - 26337219
AN - SCOPUS:84947030689
VL - 120
SP - e235-e239
JO - Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
JF - Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
SN - 2212-4403
IS - 6
ER -