Upon targeted next-generation sequencing of known OMIM causes of nephrocalcinosis and nephrolithiasis (including ATP6V1B1, ATP6V0A1, CLCN5, CLDN16, CLDN19, CYP24A1, PHEX, SLC34A3, SLC22A12, SLC2A9, SLC34A1, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1), we identified a homozygous c.575C>T, p.Ser192Leu mutation in SLC34A3 as underlying genetic diagnosis (NM_001177316) (Fig. 2a, b). The gene discussed is CLCN5; the disease is nephrocalcinosis.