A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets

Ann Clin Lab Sci. 2009 Spring;39(2):182-7.

Abstract

Mutations including nonsense mutations, missense mutations, splicing-site mutations, insertions, and deletions in phosphate regulating genes on the X-chromosome (PHEX) are known to be responsible for X-linked hypophosphatemic rickets. The PHEX gene encodes an endopeptidase that is involved in phosphate regulation. Herein we present a female patient with sporadic hypophosphatemic rickets harboring a novel deletion mutation (c.1586_1586+1delAG; p.Glu529GlyfsX41) at exon 14 and intron 14 junction, which caused a premature termination at codon 569 and possibly produced a truncated PHEX protein. The laboratory and radiologic findings of the patient are reviewed to correlate the impact of the two-base deletion mutations at the exon-intron junction.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, X*
  • Codon / genetics
  • DNA / blood
  • DNA / genetics
  • DNA / isolation & purification
  • Exons
  • Familial Hypophosphatemic Rickets / genetics*
  • Female
  • Fibula
  • Fractures, Bone / genetics
  • Genetic Diseases, X-Linked*
  • Humans
  • Introns
  • Mutation
  • PHEX Phosphate Regulating Neutral Endopeptidase / genetics*
  • Periodontal Abscess / genetics
  • Tibial Fractures / genetics

Substances

  • Codon
  • DNA
  • PHEX Phosphate Regulating Neutral Endopeptidase
  • PHEX protein, human