Novel PHEX gene mutation associated with X linked hypophosphatemic rickets

M. Chandran, C. L. Chng, Y. Zhao, Y. M. Bee, L. Y. Phua, B. L. Clarke

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

Introduction: X-linked hypophosphatemia (XLH) is characterized by renal phosphate wasting with hypophosphatemia, short stature, and rachitic manifestations. Clinical Picture: We describe a novel nonsense mutation in exon 3 of the PHEX gene (Glu96X (c.286G>T) causing XLH in a mother and daughter of Indian ancestry. The mother was noted to have concomitant vitamin D insufficiency. Conclusion: Our report identifies a novel nonsense mutation in the PHEX gene causing XLH. It also highlights the fact that the presence of concomitant vitamin D insufficiency should not preclude the diagnosis of familial forms of hypophosphatemic rickets, especially if more than one family member is affected.

Original languageEnglish (US)
Pages (from-to)p17-p21
JournalNephron - Physiology
Volume116
Issue number3
DOIs
StatePublished - Oct 1 2010

Keywords

  • Hypophosphatemia
  • PHEX
  • Rickets
  • Vitamin D deficiency

ASJC Scopus subject areas

  • Physiology
  • Nephrology
  • Physiology (medical)

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