Functional Characterization of a Novel <i>PBX1</i> De Novo Missense Variant Identified in a Pediatric Patient with CAKUT.

ABSTRACT:

Background

Genetic variants in Pre-B cell Leukemia Factor 1 (PBX1) transcription factor (TF) have been associated with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). This study aims to functionally characterize a novel missense variant in a 4-year-old patient presenting with horseshoe kidney with preserved function, in the absence of a positive familial history.

Methods

Clinical exome sequencing was performed on a 4-year-old child, followed by Sanger sequencing and family segregation studies to validate the identified variant. Functional assays to study the protein expression, molecular interactions and localization were then performed.

Results

Genetic analysis identified a novel de novo variant [c.712C>T, p.(Arg238Trp), NM_002585.3], mapping in

SUBMITTER: Scolari C 

PROVIDER: S-EPMC12652685 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature