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

doi:10.1016/j.oooo.2015.05.006

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

Medical Genetics

Research output: Contribution to journal › Article › peer-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 language	English (US)
Pages (from-to)	e235-e239
Journal	Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Volume	120
Issue number	6
DOIs	https://doi.org/10.1016/j.oooo.2015.05.006
State	Published - Dec 2015

ASJC Scopus subject areas

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

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Vieira, A. R., Lee, M., Vairo, F., Loguercio Leite, J. C., Munerato, M. C., Visioli, F., D'Ávila, S. R., Wang, S. K., Choi, M., Simmer, J. P., & Hu, J. C. C. (2015). Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 120(6), e235-e239. https://doi.org/10.1016/j.oooo.2015.05.006

Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). / Vieira, Alexandre R.; Lee, Moses; Vairo, Filippo; Loguercio Leite, Julio Cesar; Munerato, Maria Cristina; Visioli, Fernanda; D'Ávila, Stéphanie Rodrigues; Wang, Shih Kai; Choi, Murim; Simmer, James P.; Hu, Jan C.C.

In: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, Vol. 120, No. 6, 12.2015, p. e235-e239.

Research output: Contribution to journal › Article › peer-review

Vieira, AR, Lee, M, Vairo, F, Loguercio Leite, JC, Munerato, MC, Visioli, F, D'Ávila, SR, Wang, SK, Choi, M, Simmer, JP & Hu, JCC 2015, 'Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC)', Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, vol. 120, no. 6, pp. e235-e239. https://doi.org/10.1016/j.oooo.2015.05.006

Vieira, Alexandre R. ; Lee, Moses ; Vairo, Filippo ; Loguercio Leite, Julio Cesar ; Munerato, Maria Cristina ; Visioli, Fernanda ; D'Ávila, Stéphanie Rodrigues ; Wang, Shih Kai ; Choi, Murim ; Simmer, James P. ; Hu, Jan C.C. / Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). In: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 2015 ; Vol. 120, No. 6. pp. e235-e239.

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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.",

author = "Vieira, {Alexandre R.} and Moses Lee and Filippo Vairo and {Loguercio Leite}, {Julio Cesar} and Munerato, {Maria Cristina} and Fernanda Visioli and D'{\'A}vila, {St{\'e}phanie Rodrigues} and Wang, {Shih Kai} and Murim Choi and Simmer, {James P.} and Hu, {Jan C.C.}",

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