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

Research output: Contribution to journalArticle

7 Citations (Scopus)

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

Fingerprint

Hypophosphatemic Rickets
Nonsense Codon
Sequence Deletion
Introns
Exons
Genes
Familial Hypophosphatemic Rickets
INDEL Mutation
Phosphates
Endopeptidases
X-Linked Genes
Mutation
Missense Mutation
Chromosomes
Proteins

All Science Journal Classification (ASJC) codes

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

Cite this

Kim, Juwon ; Kyu, Hyun Yang ; Ji, Sun Nam ; Jong, Rak Choi ; Song, Jaewoo ; Chang, Myungsook ; Lee, Kyung A. / Case report : A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. In: Annals of Clinical and Laboratory Science. 2009 ; Vol. 39, No. 2. pp. 182-187.
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Case report : A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. / Kim, Juwon; Kyu, Hyun Yang; Ji, Sun Nam; Jong, Rak Choi; Song, Jaewoo; Chang, Myungsook; Lee, Kyung A.

In: Annals of Clinical and Laboratory Science, Vol. 39, No. 2, 01.03.2009, p. 182-187.

Research output: Contribution to journalArticle

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