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  • Title: A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.
    Author: Kim J, Yang KH, Nam JS, Choi JR, Song J, Chang M, Lee KA.
    Journal: Ann Clin Lab Sci; 2009; 39(2):182-7. PubMed ID: 19429806.
    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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