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

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• 作者：Alexandre R. Vieira ; DDS ; MS ; PhD^a ; ^b ; Moses Lee ; BS^c ; Filippo Vairo ; MD ; PhD^d ; Julio Cesar Loguercio Leite ; PhD ; MD^e ; Maria Cristina Munerato ; PhD ; MS^e ; Fernanda Visioli ; PhD^e ; Sté ; phanie Rodrigues D&rsquo ; Á ; vila ; DDS^e ; Shih-Kai Wang ; DDS ; PhD^f ; Murim Choi ; PhD^c ; ^{Murimchoi@snu.ac.kr" class="auth_mail" title="E-mail the corresponding author} ; James P. Simmer ; DDS ; PhD^f ; Jan C-C. Hu ; BDS ; PhD^f
• 刊名：Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：120
• 期：6
• 页码：e235-e239
• 全文大小：893 K

文摘

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.