Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic

• 作 者: Lihao Sun Lin Zhao Lianjun Du Peipei Zhang Minjia Zhang Min Li Tingting Liu Lei Ye Bei Tao Hongyan Zhao Jianmin Liu Xiaoyi Ding
• 机 构: Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-Tong University Scho
• 出 处: Bone Research
• 发表日期: 2016年04期

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 of1,25-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.

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 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.