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Case Reports
. 2009 Spring;39(2):182-7.

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

Affiliations
  • PMID: 19429806
Case Reports

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

Juwon Kim et al. Ann Clin Lab Sci. 2009 Spring.

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.

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