PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets

Hae Ryong Song, Joo Won Park, Dae Yeon Cho, Hyuk Yang Jae, Hye Ran Yoon, Sung Chul Jung

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27 Citations (Scopus)


X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients: two nonsense mutations, two missense mutations, one insertion, and three splicing acceptor/donor site mutations. Of these, c.64G>T, c.1699C>T, c.466_467 insAC, c.1174-1G>A, and c.1768+5G>A were novel mutations. To analyze the correlation between genotype and phenotype, phenotypes were compared between groups with and without a mutation, in terms of mutation location, mutation type, and sex. Skeletal disease tended to be more severe in the group with a mutation in the C-terminal half of the PHEX gene, but no genotype-phenotype correlation was detected in other comparisons. Further extensive studies of the PHEX gene mutations and analyses of the genotype-phenotype relationships are required to understand PHEX function and the pathogenesis of XLH.

Original languageEnglish
Pages (from-to)981-986
Number of pages6
JournalJournal of Korean Medical Science
Issue number6
Publication statusPublished - 2007 Dec 1



  • Genotype
  • Hypophosphatemic rickets, X-linked dominant
  • Mutation
  • Phenotype
  • PHEX

ASJC Scopus subject areas

  • Medicine(all)

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