title: Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing.
abstract: Familial hypophosphatemic rickets (HR), the most common inherited form of rickets, is a group of inherited renal phosphate wasting disorders characterized by growth retardation, rickets with bone deformities, osteomalacia, poor dental development, and hypophosphatemia. The purpose of this study was to identify the genetic defect responsible for familial HR in a four-generation Chinese Han pedigree by exome sequencing and Sanger sequencing. Clinical features include skeletal deformities, teeth abnormalities, hearing impairments and variable serum phosphate level in patients of this family. A novel deletion mutation, c.1553delT (p.F518Sfs*4), was identified in the X-linked phosphate regulating endopeptidase homolog gene (PHEX). The mutation is predicted to result in prematurely truncated and loss-of-function PHEX protein. Our data suggest that exome sequencing is a powerful tool to discover mutation(s) in HR, a disorder with genetic and clinical heterogeneity. The findings may also provide new insights into the cause and diagnosis of HR, and have implications for genetic counseling and clinical management.
authors: Lamei
authors: L
authors: Yuan
authors: Song
authors: S
authors: Wu
authors: Hongbo
authors: H
authors: Xu
authors: Jingjing
authors: J
authors: Xiao
authors: Zhijian
authors: Z
authors: Yang
authors: Hong
authors: H
authors: Xia
authors: An
authors: A
authors: Liu
authors: Pengzhi
authors: P
authors: Hu
authors: Anjie
authors: A
authors: Lu
authors: Yulan
authors: Y
authors: Chen
authors: Fengping
authors: F
authors: Xu
authors: Hao
authors: H
authors: Deng
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002681:China; D059472:Exome / Q000235:genetics*; D053098:Familial Hypophosphatemic Rickets / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics* / Q000378:metabolism; D017421:Sequence Analysis
chemical_list: D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human