Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets

Fu Sung Lo*, Min Tzu Kuo, Chao Jan Wang, Chia Hsieh Chang, Zhon Liau Lee, Yang Hau Van

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

16 Scopus citations


Backgrounds: X-linked hypophosphatemic rickets (XLH) is an X-linked dominant disease characterized by renal phosphate wasting, hypophosphatemia, aberrant vitamin D metabolism, and defective bone mineralization. The disease is caused by mutations in the PHEX gene (phosphate-regulating gene with homologies to endopeptidases on the X-chromosome) located at Xp22.1. To date, a variety of PHEX mutations have been identified in these patients. Methods: PCR and direct sequencing was performed for all exons and intron-exon boundaries of the PHEX gene in two XLH families. Results: Two novel mutations, including a missense mutation (L206W) in exon 5 and a frameshift mutation (nucleotide 1826_ 1830delAAAAG, stop after codon 610) in exon 18 were discovered and the laboratory and radiographic findings for these patients analyzed. Conclusions: We found that PHEX gene mutations were responsible for XLH in these Taiwanese patients. Additional studies are needed to enhance understanding of the role of PHEX in XLH pathogenesis.

Original languageEnglish
Pages (from-to)p157-p163
JournalNephron - Physiology
Issue number4
StatePublished - 07 2006
Externally publishedYes


  • Bone mineralization
  • Hypophosphatemia
  • Phosphate-regulating gene with homologies to endopeptidases on X-chromosome
  • X-linked hypophosphate rickets


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