Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets

@article{citeulike:2223031, abstract = {Abstract\ \ X-linked dominant hypophosphatemia (XLH, OMIM307800), the most prevalent form of inherited rickets in humans, is a dominant disorder of phosphate homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal phosphate wasting. The gene responsible for XLH was identified by positional cloning and designated PHEX (formerly PEX) to depict a phosphate-regulating gene homologous with endopeptidases on the X chromosome. Recently, extensive mutation analysis of the PHEX gene has revealed a wide variety of gene defects in XLH. The ethnic distribution of the mutations is very widespread but only a few mutations in Chinese have been reported. To analyze the molecular basis in three unrelated Chinese families with XLH, we determined the nucleotide sequence of the PHEX gene and fibroblast growth factor 23 (FGF23) gene of affected members. The serum FGF23 concentrations of these patients with XLH were also measured. Three different novel mutations were observed in these three families: one deletion mutation c.264delG causing p.W88 X; one missense mutation c.1673C\>G causing p.P558A; one nonsense mutation c.1809G\>A causing p.W603 X. Serum concentration of FGF23 in XLH patients of these three families was significantly higher than normal. The results suggest that PHEX gene mutations were responsible for XLH in these patients and these mutations may contribute to a higher serum FGF23 level.}, author = {Xia, Weibo and Meng, Xunwu and Jiang, Yan and Li, Mei and Xing, Xiaoping and Pang, Li and Wang, Ou and Pei, Yu and Yu, Li-Yun and Sun, Yue and Hu, Yingying and Zhou, Xueying }, citeulike-article-id = {2223031}, doi = {10.1007/s00223-007-9067-4}, journal = {Calcified Tissue International}, keywords = {bone, mineral, molecular, vitamind-system}, month = {December}, number = {6}, pages = {415--420}, posted-at = {2008-01-12 17:57:56}, priority = {2}, title = {Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets}, url = {http://dx.doi.org/10.1007/s00223-007-9067-4}, volume = {81}, year = {2007} }

TY - JOUR ID - citeulike:2223031 TI - Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets JF - Calcified Tissue International VL - 81 IS - 6 SP - 415 EP - 420 N2 - Abstract  X-linked dominant hypophosphatemia (XLH, OMIM307800), the most prevalent form of inherited rickets in humans, is a dominant disorder of phosphate homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal phosphate wasting. The gene responsible for XLH was identified by positional cloning and designated PHEX (formerly PEX) to depict a phosphate-regulating gene homologous with endopeptidases on the X chromosome. Recently, extensive mutation analysis of the PHEX gene has revealed a wide variety of gene defects in XLH. The ethnic distribution of the mutations is very widespread but only a few mutations in Chinese have been reported. To analyze the molecular basis in three unrelated Chinese families with XLH, we determined the nucleotide sequence of the PHEX gene and fibroblast growth factor 23 (FGF23) gene of affected members. The serum FGF23 concentrations of these patients with XLH were also measured. Three different novel mutations were observed in these three families: one deletion mutation c.264delG causing p.W88 X; one missense mutation c.1673C>G causing p.P558A; one nonsense mutation c.1809G>A causing p.W603 X. Serum concentration of FGF23 in XLH patients of these three families was significantly higher than normal. The results suggest that PHEX gene mutations were responsible for XLH in these patients and these mutations may contribute to a higher serum FGF23 level. KW - bone KW - mineral KW - molecular KW - vitamind-system AU - Xia, Weibo AU - Meng, Xunwu AU - Jiang, Yan AU - Li, Mei AU - Xing, Xiaoping AU - Pang, Li AU - Wang, Ou AU - Pei, Yu AU - Yu, Li-Yun AU - Sun, Yue AU - Hu, Yingying AU - Zhou, Xueying PY - 2007/12/25/ UR - http://dx.doi.org/10.1007/s00223-007-9067-4 ER -