Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease.

Dinah Clark¹, Robert Burns¹, Michelle S Bloom¹, Karen Phaik Har Lim¹, Lili Li¹, Lisa M Vincent¹, Jing Xie¹, Yuan Xue², Sumit Punj¹

¹Natera, Inc., Austin, Texas, USA.

²Fulgent Genetics, Temple City, California, USA.

PubMed DOI

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) affects 1 in 1000 adults. Most cases result from causative PKD1 or PKD2 variants. HNF1B, GANAB and ALG9 variants are also associated with ADPKD. Recent evidence indicates that monoallelic loss-of-function (LoF) IFT140 variants are a cause for non-syndromic ADPKD. We describe 368 patients with IFT140 LoF variants and a spectrum of phenotypic find…

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