Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

Shoji Ichikawa, Elizabeth A. Traxler, Selina A. Estwick, Leah R. Curry, Michelle L. Johnson, Andrea H. Sorenson, Erik A. Imel, Michael J. Econs

Research output: Contribution to journalArticle

36 Scopus citations

Abstract

X-linked hypophosphatemic rickets (XLH) is a dominantly inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. XLH is caused by inactivating mutations in PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). In this study, we sequenced the PHEX gene in subjects from 26 kindreds who were clinically diagnosed with XLH. Sequencing revealed 18 different mutations, of which thirteen have not been reported previously. In addition to deletions, splice site mutations, and missense and nonsense mutations, a rare point mutation in the 3′-untranslated region (3′-UTR) was identified as a novel cause of XLH. In summary, we identified a wide spectrum of mutations in the PHEX gene. Our data, in accord with those of others, indicate that there is no single predominant PHEX mutation responsible for XLH.

Original languageEnglish (US)
Pages (from-to)663-666
Number of pages4
JournalBone
Volume43
Issue number4
DOIs
StatePublished - Oct 1 2008

Keywords

  • 3′-untranslated region
  • Mutation
  • PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome)
  • Phosphate
  • X-linked hypophosphatemic rickets

ASJC Scopus subject areas

  • Physiology
  • Hematology
  • Endocrinology, Diabetes and Metabolism
  • Histology

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    Ichikawa, S., Traxler, E. A., Estwick, S. A., Curry, L. R., Johnson, M. L., Sorenson, A. H., Imel, E. A., & Econs, M. J. (2008). Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets. Bone, 43(4), 663-666. https://doi.org/10.1016/j.bone.2008.06.002