In conclusion, we report a novel heterozygous mutation c.680A>G (p. N227S) in SLC34A1 in an autosomal dominant hypophosphatemia pedigree, which enriches the clinical phenotype caused by the mutations of SLC34A1 and affirms the heterozygous mutations are causative for hypophosphatemia. The gene discussed is SLC34A1; the disease is hypophosphatemia.