Presentation description

Diabetic kidney disease (DKD) is a complication of diabetes and is the world’s leading cause of end-stage renal disease. Genetic factors are known to contribute to DKD susceptibility, however, the identification of variants that underlie its risk has been challenging. The role of ciliary gene C5orf42 in DKD was investigated through the analysis four pathogenic variants of gene C5orf42 identified in three DKD patients.