title: Identification of two novel mutations in theGALNT3gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis.
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 D3levels.HFTC is caused by loss-of-function mutations in theGALNT3,FGF23orKLgenes. Here, we identified two novel mutations in theGALNT3gene 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.
authors.affiliation: Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine , 197 Rui-jin Er Road, Shanghai 200025, China.
authors.forename: Lihao
authors.initials: L
authors.lastname: Sun
authors.affiliation: 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.
authors.forename: Lin
authors.initials: L
authors.lastname: Zhao
authors.affiliation: Department of Radiology, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine , 197 Rui-jin Er Road, Shanghai 200025, China.
authors.forename: Lianjun
authors.initials: L
authors.lastname: Du
authors.affiliation: Department of Radiology, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine , 197 Rui-jin Er Road, Shanghai 200025, China.
authors.forename: Peipei
authors.initials: P
authors.lastname: Zhang
authors.affiliation: Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine , 197 Rui-jin Er Road, Shanghai 200025, China.
authors.forename: Minjia
authors.initials: M
authors.lastname: Zhang
authors.affiliation: Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine , 197 Rui-jin Er Road, Shanghai 200025, China.
authors.forename: Min
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine , 197 Rui-jin Er Road, Shanghai 200025, China.
authors.forename: Tingting
authors.initials: T
authors.lastname: Liu
authors.affiliation: Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine , 197 Rui-jin Er Road, Shanghai 200025, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Ye
authors.affiliation: Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine , 197 Rui-jin Er Road, Shanghai 200025, China.
authors.forename: Bei
authors.initials: B
authors.lastname: Tao
authors.affiliation: Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine , 197 Rui-jin Er Road, Shanghai 200025, China.
authors.forename: Hongyan
authors.initials: H
authors.lastname: Zhao
authors.affiliation: Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine , 197 Rui-jin Er Road, Shanghai 200025, China.
authors.forename: Jianmin
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Radiology, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine , 197 Rui-jin Er Road, Shanghai 200025, China.
authors.forename: Xiaoyi
authors.initials: X
authors.lastname: Ding