Hypophosphatemic kidney stones with osteoporosis is a rare disease clinically. Mutations in the solute carrier family 34 member 1 gene (SLC34A1), encoding NaPi-IIa, are considered to be associated with this disease. In this report, a 38-year-old Chinese woman was diagnosed with hypophosphatemic kidney stones with osteoporosis. Her clinical features were recorded, and biochemical tests and DNA sequencing were performed of the proband and her parents. Sequencing revealed that she inherited the c.1753T>C SLC34A1 mutation from her mother. This mutation in exon 13 of SLC34A1 causes a substitution of serine with proline (p. S585P) at position 585 of NaPi-IIa. This is a novel mutation that has not previously been reported, and which shows autosomal dominant inheritance. It is expected to lead to changes in protein function, and we believe that it is the cause of pathology in our patient.
Keywords: DNA sequencing; NaPi-IIa; SLC34A1; hypophosphatemic kidney stones; osteoporosis; point mutation.