Novel PHEX gene mutation in one Taiwanese woman with hypophosphatemic rickets

X-linked hypophosphatemic rickets (XLH) is the most frequently encountered form of hereditary renal phosphate wasting. XLH is an X-linked dominant disease characterized by defective renal phosphate transport, which causes phosphate wasting, hypophosphatemia, aberrant vitamin D metabolism, and defective bone mineralization. The disease is induced by mutations in the gene encoding for PHEX (phosphate-regulating gene with homologies to endopeptidases on the X-chromosome) located at Xp22.1. Herein, we describe one novel phex mutation, a nonsense (R567X) mutation- in exon 16 in a Taiwanese woman with X-linked hypophosphatemic rickets, and present the laboratory and radiographic findings for this patient.