OBJECTIVETo screen potential mutations of PHEX gene in a family featuring hypophosphatemic rickets in order to confirm the molecular diagnosis and pathogenetic mechanism.

METHODSGenomic DNA was extracted from peripheral venous blood samples. DNA sequence of PHEX gene was derived from UCSC database, and primers for its coding region were designed with Primer premier 5.0. Potential mutations were detected with PCR amplification and DNA sequence analysis.

RESUTLSA mutation was identified in intron 6 of the PHEX gene in the proband and his mother.

CONCLUSIONThe c.732+1G>T mutation underlies the hypophosphatemic rickets in this family.