Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease

Monoallelic mutations of DNAJB11 were recently described in seven pedigrees with atypical clinical presentations of autosomal dominant polycystic kidney disease. DNAJB11 encodes one of the main cofactors of the endoplasmic reticulum chaperon BiP, a heat-shock protein required for efficient protein folding and trafficking. Here we conducted an international collaborative study to better characterize the DNAJB11-associated phenotype. Thirteen different loss-of-function variants were identified in 20 new pedigrees (54 affected individuals) by targeted next-generation sequencing, whole-exome sequencing or whole-genome sequencing.

Source: Kidney International - March 22, 2020 Category: Urology & Nephrology Authors: Vinh T. Huynh, Marie-Pierre Audr ézet, John A. Sayer, Albert C. Ong, Siriane Lefevre, Valoris Le Brun, Aurore Després, Sarah R. Senum, Fouad Chebib, Miguel Barroso-Gil, Chirag Patel, Andrew J. Mallett, Himanshu Goel, Amali C. Mallawaarachchi, Albertien Tags: Clinical Investigation Source Type: research