X-linked hypophosphatemic rickets: a new mutation

Abstract Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 have been found to cause hypophosphatemic rickets. The authors report a clinical case of 4-year-old girl with unremarkable family history, who presented failure thrive and bowing legs. Laboratory tests showed hypophosphatemia, elevated alkaline phosphatase, normal calcium, mildly PTH levels 25(OH)D 1.25(OH)D. radiological study bone deformities radius femur. Clinical diagnosis phosphopenic was made genetic detected heterozygous likely pathogenic variant gene: c.767_768del (p.Thr256Serfs*7). This not previously described literature or databases. Knowledge about new can improve patient’s outcome. Genetic analysis help establish genotype-phenotype correlation.