Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney cysts, often resulting in end-stage renal disease (ESRD). This disorder is genetically heterogeneous with ∼7% of families genetically unresolved. We performed whole-exome sequencing (WES) in two multiplex ADPKD-like pedigrees, and we analyzed a further 591 genetically unresolved, phenotypically similar families by targeted next-generation sequencing of 65 candidate genes. WES identified a DNAJB11 miss ense variant (p.Pro54Arg) in two family members presenting with non-enlarged polycystic kidneys and a frameshifting change (c.166_167insTT) in a second family with small renal and liver cysts.

Source: The American Journal of Human Genetics - April 26, 2018 Category: Genetics & Stem Cells Authors: Emilie Cornec-Le Gall, Rory J. Olson, Whitney Besse, Christina M. Heyer, Vladimir G. Gainullin, Jessica M. Smith, Marie-Pierre Audr ézet, Katharina Hopp, Binu Porath, Beili Shi, Saurabh Baheti, Sarah R. Senum, Jennifer Arroyo, Charles D. Madsen, Claude F Tags: Article Source Type: research