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Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.
Calcif Tissue Int. 2007 Dec; 81(6):415-20.CT

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.

Authors+Show Affiliations

Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China. xiaweibo@medmail.com.cnNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18046499

Citation

Xia, Weibo, et al. "Three Novel Mutations of the PHEX Gene in Three Chinese Families With X-linked Dominant Hypophosphatemic Rickets." Calcified Tissue International, vol. 81, no. 6, 2007, pp. 415-20.
Xia W, Meng X, Jiang Y, et al. Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets. Calcif Tissue Int. 2007;81(6):415-20.
Xia, W., Meng, X., Jiang, Y., Li, M., Xing, X., Pang, L., Wang, O., Pei, Y., Yu, L. Y., Sun, Y., Hu, Y., & Zhou, X. (2007). Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets. Calcified Tissue International, 81(6), 415-20.
Xia W, et al. Three Novel Mutations of the PHEX Gene in Three Chinese Families With X-linked Dominant Hypophosphatemic Rickets. Calcif Tissue Int. 2007;81(6):415-20. PubMed PMID: 18046499.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets. 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, Y1 - 2007/11/29/ PY - 2007/02/26/received PY - 2007/07/20/accepted PY - 2007/11/30/pubmed PY - 2008/5/8/medline PY - 2007/11/30/entrez SP - 415 EP - 20 JF - Calcified tissue international JO - Calcif Tissue Int VL - 81 IS - 6 N2 - 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. SN - 0171-967X UR - https://www.unboundmedicine.com/medline/citation/18046499/Three_novel_mutations_of_the_PHEX_gene_in_three_Chinese_families_with_X_linked_dominant_hypophosphatemic_rickets_ L2 - https://dx.doi.org/10.1007/s00223-007-9067-4 DB - PRIME DP - Unbound Medicine ER -