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. This evidence concerns the gene SLC34A1 and autosomal dominant hypophosphatemic rickets.