A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease
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Date
2015
Authors
Ali, Hamad
Hussain, Naser
Naim, Medhat
Zayed, Mohamed
Al-Mulla, Fahd
Kehinde, Elijah
Seaburg, Lauren
Sundsbak, Jamie
Harris, Peter
Journal Title
Journal ISSN
Volume Title
Publisher
Ali et al. BMC Nephrology
Abstract
Autosomal 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.
Description
Keywords
polycystic kidney disease, ADPKD, PKD1, ESRD, Novel variant, Genetic modifier, eGFR, PKD1, Research Subject Categories::MEDICINE