Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants

Autosomal dominant polycystic kidney disease (ADPKD) is the most common heritable disease. ADPKD leads to cysts, enlargement and end-stage renal mainly caused by variants in PKD1 PKD2, with truncating causing severe phenotype. This study aimed characterize Danish patients referred for screening of genes related cystic 147 families were analysed PKD1, PKD2 GANAB using next generation sequencing multiplex ligation-dependent probe amplification. If a variant was identified, relatives specific Sanger sequencing. A pathogenic or possibly identified 87% (103/118) suspected suffer from ADPKD, according requisition form. In total, 112 observed, which 94 unique; 74 (79%) 20 (21%) while 41 novel. No observed. Ten recurrent observed 26 (26%) families. These either (N = 6) non-truncating 4). Five these likely founder variants. The distribution population similar that other populations, except appear be rare, i.e. tend types associated mild Patients phenotype may remain undiagnosed, consequently frequency prevalence underestimated.