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

Juwon Kim, Hyun Yang Kyu, Sun Nam Ji, Rak Choi Jong, Jaewoo Song, Myungsook Chang, Kyung A. Lee

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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.

Original languageEnglish
Pages (from-to)182-187
Number of pages6
JournalAnnals of Clinical and Laboratory Science
Volume39
Issue number2
Publication statusPublished - 2009 Mar 1

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All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Immunology and Allergy
  • Hematology
  • Medical Laboratory Technology
  • Microbiology
  • Molecular Biology
  • Clinical Biochemistry
  • Immunology

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