Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited, progressive nephropathy accounting for 4-10% of end stage renal disease worldwide. PKD1 and PKD2 are the most common disease loci, but even accounting for other genetic causes, about 7% of families remain unresolved. Typically, these unsolved cases have relatively mild kidney disease and often have a negative family history. Mosaicism, due to de novo mutation in the early embryo, has rarely been identified by conventional genetic analysis of ADPKD families.

Source: Kidney International - October 8, 2019 Category: Urology & Nephrology Authors: Katharina Hopp, Emilie Cornec-Le Gall, Sarah R. Senum, Iris BAW. te Paske, Sonam Raj, Sravanthi Lavu, Saurabh Baheti, Marie E. Edwards, Charles D. Madsen, Christina M. Heyer, Albert CM. Ong, Kyongtae T. Bae, Richard Fatica, Theodore I. Steinman, Arlene B. Tags: Clinical Investigation Source Type: research