A novo missense variant of the PHEX gene in patients with X-linked dominant hypophosphatemia

Abstract X-linked hypophosphatemia (XLH) is characterized by low serum phosphate concentration. Both males and females could be affected, and males tend to perform more severely. Identification of a pathological variation in the phosphate-regulating gene with homologies to endopeptidase on the X chromosome ( PHEX ) gene regulating phosphate located in the X chromosome by molecular genetic detection confirms the diagnosis. The current pharmacologic treatments mainly focus on relieving symptoms instead of preventing it occur. A maternally inherited novo missense heterozygous variant c.1256G>A in exon 11 of the PHEX gene was found in the proband and her mother. SIFT, Polyphen2 and PROVEAN predicted it as a deleterious mutation. This mutation was also detected in an affected maternal grandmother and an affected maternal uncle, a healthy maternal uncle and three healthy maternal aunts and their offspring did not carry this mutation. We identified a novo PHEX variant c.1256G>A, p.(Gly419Glu), the heterozygous mutation may be the cause of the deformity in this family.