title: [Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia].
abstract: OBJECTIVE
  To identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH).
  
  
  METHODS
  PCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples.
  
  
  RESULTS
  A splicing site mutation, IVS21+2T>G, was found in the PHEX gene in both patients but not among the 100 healthy controls. RT-PCR confirmed that exon 21 of the PHEX gene was deleted.
  
  
  CONCLUSIONS
  The novel splicing mutation IVS21+2T>G of the PHEX gene probably underlies the XLH in this pedigree. At the mRNA level, the mutation has led to removal of exon 21 and shift of the open reading frame (p.Val691fsx), resulting in premature termination of protein translation.
authors.affiliation: Center for Reproductive Medicine, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, Shandong 250000, China. gaoyuan@sduivf.com.
authors.forename: Jie
authors.initials: J
authors.lastname: Li
authors.forename: Peiwen
authors.initials: P
authors.lastname: Xu
authors.forename: Sexin
authors.initials: S
authors.lastname: Huang
authors.forename: Ming
authors.initials: M
authors.lastname: Gao
authors.forename: Yang
authors.initials: Y
authors.lastname: Zou
authors.forename: Ranran
authors.initials: R
authors.lastname: Kang
authors.forename: Yuan
authors.initials: Y
authors.lastname: Gao
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D053098:Familial Hypophosphatemic Rickets / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics*; D010375:Pedigree; D012326:RNA Splicing; D055815:Young Adult
chemical_list: D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human