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  • Title: Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.
    Author: Chandran M, Chng CL, Zhao Y, Bee YM, Phua LY, Clarke BL.
    Journal: Nephron Physiol; 2010; 116(3):p17-21. PubMed ID: 20664300.
    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.
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