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Article

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

American journal of medical genetics. Part A - 1 Dec 2024

Clark Dinah, Burns Robert, Bloom Michelle S, Lim Karen Phaik Har, Li Lili, Vincent Lisa M, Xie Jing, Xue Yuan, Punj Sumit

Abstract excerpt

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 findings that...

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Source

Identifiers

PMID: 39136524
DOI: 10.1002/ajmg.a.63841

Genes

IFT140
ALG9
GANAB
HNF1B
PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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