Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.

doi:10.1016/j.ajhg.2021.11.016

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Article

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.

American journal of human genetics - 6 Jan 2022

Senum Sarah R, Li Ying Sabrina M, Benson Katherine A, Joli Giancarlo, Olinger Eric, Lavu Sravanthi, Madsen Charles D, Gregory Adriana V, Neatu Ruxandra, Kline Timothy L, Audrézet Marie-Pierre, Outeda Patricia, Nau Cherie B, Meijer Esther, Ali Hamad, Steinman Theodore I, Mrug Michal, Phelan Paul J, Watnick Terry J, Peters Dorien J M, Ong Albert C M, Conlon Peter J, Perrone Ronald D, Cornec-Le Gall Emilie, Hogan Marie C, Torres Vicente E, Sayer John A, Harris Peter C

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst formation/expansion, results in enlarged kidneys and often end stage kidney disease. ADPKD is genetically heterogeneous; PKD1 and PKD2 are the common loci (∼78% and ∼15% of families) and GANAB, DNAJB11, and ALG9 are minor genes. PKD is a ciliary-associated disease, a ciliopathy, and many syndromic ciliopathies have a PKD...

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PMID: 34890546
DOI: 10.1016/j.ajhg.2021.11.016
PMCID: PMC8764120

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