title: [Three PHEX gene mutations in Chinese subjects with hypophosphatemic rickets and literature review].
abstract: The clinical data of three Chinese children who had been definitely diagnosed with X-link dominate hypophosphatemic rickets (XLH) by gene mutation analysis of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) were retrospectively studied and the relevant literature was reviewed. PHEX gene mutations were detected in all 3 XLH children; a nonsense mutation (c.58C>T) in one case and splicing mutations (c.1645+1G>A, c.436+1G>A) in the other two cases. Among these mutations, c.436+1G>A was novel. As of January 2014, a total of 329 PHEX gene mutations were reported, primarily within three mutation hot spots, throughout the world. Missense mutations accounted for the highest proportion (24%) among all mutations. There is literature showing geographic differences in the total number of XLH subjects and PHEX mutation types across the world. In the current literature, 89 cases of XLH with 28 types of PHEX mutations have been reported in the population of mainland China. Exon 22 is the most frequent mutation site (18%) and missense mutations are the most common type of mutations (61%). It is concluded that exon 22 is the mutation hot spot and missense mutation is the most common type of mutation in the PHEX gene in Chinese XLH patients and that c.436+1G>A detected in this study is a novel PHEX gene mutation in Chinese with XLH.
authors.affiliation: Department of Pediatrics, Peking Union Medical College Hospital , Beijing 100730, China. zhengqingqiu33@aliyun.com.
authors.forename: Shuang
authors.initials: S
authors.lastname: Liu
authors.forename: Min
authors.initials: M
authors.lastname: Wei
authors.forename: Juan
authors.initials: J
authors.lastname: Xiao
authors.forename: Chang-Yan
authors.initials: CY
authors.lastname: Wang
authors.forename: Zheng-Qing
authors.initials: ZQ
authors.lastname: Qiu
mesh_terms: D002648:Child; D002675:Child, Preschool; D053098:Familial Hypophosphatemic Rickets / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics*
chemical_list: D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human