Dent disease type 1 (DD1, MIM#300009) accounts for about 60% of Dent disease cases and is caused by more than 200 different types of changes in various regions of the CLCN5 gene (Gene ID: 1184, OMIM #300008) [2], including frameshifts (29.1%), abnormal splicing (12.4%) and premature translational termination (nonsense mutations, 17.5%) [3, 4]. The gene discussed is CLCN5; the disease is Dent disease type 1.