A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease

Ali, HamadHussain, NaserNaim, MedhatZayed, MohamedAl-Mulla, FahdKehinde, ElijahSeaburg, LaurenSundsbak, JamieHarris, Peter2016-11-212016-11-212015http://nur.nu.edu.kz/handle/123456789/1900Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows significant intrafamilial phenotypic variability in the rate of disease progression and extra-renal manifestations, which suggests the involvement of heritable modifier genes. Here we show that the PKD1 gene can act as a disease causing and a disease modifier gene in ADPKD patients.enAttribution-NonCommercial-ShareAlike 3.0 United Statespolycystic kidney diseaseADPKDPKD1ESRDNovel variantGenetic modifiereGFRPKD1Research Subject Categories::MEDICINEA novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney DiseaseArticle