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

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

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
Volume22
Issue number6
DOIs
Publication statusPublished - 2007 Dec 1

Fingerprint

Hypophosphatemic Rickets
Genotype
Phenotype
Mutation
Genes
Familial Hypophosphatemic Rickets
Genetic Association Studies
Nonsense Codon
Missense Mutation

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

Cite this

PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets. / Song, Hae Ryong; Park, Joo Won; Cho, Dae Yeon; Jae, Hyuk Yang; Yoon, Hye Ran; Jung, Sung Chul.

In: Journal of Korean Medical Science, Vol. 22, No. 6, 01.12.2007, p. 981-986.

Research output: Contribution to journalArticle

Song, Hae Ryong ; Park, Joo Won ; Cho, Dae Yeon ; Jae, Hyuk Yang ; Yoon, Hye Ran ; Jung, Sung Chul. / PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets. In: Journal of Korean Medical Science. 2007 ; Vol. 22, No. 6. pp. 981-986.
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