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Article

The population frequency of predicted pathogenic genetic variants in commonly affected CAKUT genes in the general population.

Pediatric nephrology (Berlin, Germany) - 1 Oct 2026

Huang Mary, Savige Judy

Abstract excerpt

BACKGROUND: Renal imaging suggests that congenital anomalies of the kidney and urinary tract (CAKUT) affect one in 200 of the population, and 20% have a monogenic cause. This study determined the population frequency of predicted pathogenic variants in six commonly affected CAKUT genes. METHODS: HNF1B, SALL1, EYA1, PBX1, GATA3, and PAX2 variants were downloaded from gnomAD v.2.1.1 (n = 141,456) and the population...

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Share to Hepatocyte Nuclear Factor 1-beta
Share to Intracellular Signaling Peptides and Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney

Share to Mutation, Missense

Share to PAX2 Transcription Factor

Share to Protein Tyrosine Phosphatases

Share to Urogenital Abnormalities

Share to Vesico-Ureteral Reflux

Source

Open in PubMed Open full text

Identifiers

PMID: 42142172
DOI: 10.1007/s00467-026-07324-4
PMCID: PMC13481559

Genes

EYA1
GATA3
HNF1B
PAX2
PBX1
SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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