Novel PHEX gene mutation in one Taiwanese woman with hypophosphatemic rickets

PEN-HUA SU2026-10-162026-10-162007-03-01Pure ID: 15454454Pure UUID: e45ad80d-d53c-4217-936e-3168af002cfdhttps://www.scopus.com/pages/publications/34247267755https://scholars.csmu.edu.tw/handle/123456789/33699X-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.6enNovel PHEX gene mutation in one Taiwanese woman with hypophosphatemic ricketsjournal article