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Bone Res. 2016 Nov 8;4:16038. eCollection 2016.

Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis.

Author information

1
Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine , 197 Rui-jin Er Road, Shanghai 200025, China.
2
Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine, 197 Rui-jin Er Road, Shanghai 200025, China; Department of Endocrinology and Metabolism, Zhong-shan Hospital, Fudan University, Shanghai 200032, China.
3
Department of Radiology, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine , 197 Rui-jin Er Road, Shanghai 200025, China.

Abstract

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, autosomal recessive genetic disease. This disease is characterized by the progressive calcification of soft tissues leading to symptoms of pressure and hyperphosphatemia but normal concentrations of serum calcium with or without an elevation of 1,25-dihydroxyvitamin D3 levels.HFTC is caused by loss-of-function mutations in the GALNT3, FGF23 or KL genes. Here, we identified two novel mutations in the GALNT3 gene in a Chinese family with HFTC. Identification of a novel genotype in HFTC provides clues for understanding the phenotype-genotype relationships in HFTC and may assist not only in the clinical diagnosis of HFTC but also in the interpretation of the genetic information used for prenatal diagnosis and genetic counseling.

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