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

doi:10.1016/j.ajhg.2018.03.013

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Article

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

American journal of human genetics - 3 May 2018

Cornec-Le Gall Emilie, Olson Rory J, Besse Whitney, Heyer Christina M, Gainullin Vladimir G, Smith Jessica M, Audrézet Marie-Pierre, Hopp Katharina, Porath Binu, Shi Beili, Baheti Saurabh, Senum Sarah R, Arroyo Jennifer, Madsen Charles D, Férec Claude, Joly Dominique, Jouret François, Fikri-Benbrahim Oussamah, Charasse Christophe, Coulibaly Jean-Marie, Yu Alan S, Khalili Korosh, Pei York, Somlo Stefan, Le Meur Yannick, Torres Vicente E, Harris Peter C

Abstract excerpt

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...

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Identifiers

PMID: 29706351
DOI: 10.1016/j.ajhg.2018.03.013
PMCID: PMC5986722

Genes

DNAJB11
UMOD

Variants

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