Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.

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 (Glu(96)X (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.

DOI: 10.1159/000319318

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Cite this paper

@article{Chandran2010NovelPG, title={Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.}, author={Manju Chandran and Chiaw Ling Chng and Y Zhao and Yong Mong Bee and L Y Phua and Bart L Clarke}, journal={Nephron. Physiology}, year={2010}, volume={116 3}, pages={p17-21} }