Novel PHEX gene mutation associated with X linked hypophosphatemic rickets

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

Research output: Contribution to journalArticle

7 Citations (Scopus)

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)
JournalNephron - Physiology
Volume116
Issue number3
DOIs
StatePublished - Oct 1 2010
Externally publishedYes

Fingerprint

Familial Hypophosphatemic Rickets
Mutation
Nonsense Codon
Vitamin D
Genes
Mothers
Hypophosphatemia
Rickets
Nuclear Family
Exons
Phosphates
Kidney

Keywords

  • Hypophosphatemia
  • PHEX
  • Rickets
  • Vitamin D deficiency

ASJC Scopus subject areas

  • Physiology
  • Nephrology
  • Physiology (medical)

Cite this

Novel PHEX gene mutation associated with X linked hypophosphatemic rickets. / Chandran, M.; Chng, C. L.; Zhao, Y.; Bee, Y. M.; Phua, L. Y.; Clarke, Bart.

In: Nephron - Physiology, Vol. 116, No. 3, 01.10.2010.

Research output: Contribution to journalArticle

Chandran, M. ; Chng, C. L. ; Zhao, Y. ; Bee, Y. M. ; Phua, L. Y. ; Clarke, Bart. / Novel PHEX gene mutation associated with X linked hypophosphatemic rickets. In: Nephron - Physiology. 2010 ; Vol. 116, No. 3.
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