PKD1 and autosomal dominant polycystic kidney disease: We identified via genome sequencing analysis a single nucleotide duplication within the PKD1 5′UTR, NM_001009944.3:c.−69dupG; NC_000016.10:g.2135757_2135758insC (Dec.2013: hg38, GRCh38) in a male proband (RBW402, supplementary Fig. 1) with a clinical diagnosis of ADPKD, without a significant family history (Fig. 2A).