Recognising that NPT2 is the major Na/Pi cotransporter in the kidney, that hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is caused by a renal Pi leak and, that Npt2 knockout mice demonstrate a biochemical phenotype similar to that of patients with HHRH, we sought to determine whether NPT2 was a candidate gene for this disorder. Using single-strand conformation polymorphsim (SSCP) analysis and sequencing in six unrelated pedigrees with the disease, we found no disease-causing mutations. Two polymorphisms were identified in the gene and used as markers to examine segregation of NPT2 with the disease. HHRH did not segregate with the gene markers. In addition, the impact of NPT2 on bone mineral density (BMD) was examined by genotyping a population of 104 individuals for which BMD data was available, and determining whether there was an association between NPT2 genotype and bone density. No significant association was found between NPT2 genotype and BMD.

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