Identification of a novel COL4A4 mutation in a family with thin-basement-membrane nephropathy and the pathogenic mechanism

Objective To explore a new pathogenic gene mutation in in COL4A3 and COL4A4 genes of a family with thin-basement-membrance nephropathy(TBMN),and explain its mechanism.Methods Genomic DNA was extracted from blood samples.Mutation screening for all the exons in COL4A3 and COL4A4 of the proband