Clinical and Genetic Insights Into Isolated Proteinuria With <i>CUBN</i> Variants.

ABSTRACT:

Introduction

Cubilin is a multiligand receptor essential for vitamin B12 uptake in the small intestine and for low-molecular-weight protein reabsorption in the proximal tubule. Biallelic CUBN variants cause Imerslund-Gräsbeck syndrome (IGS), often accompanied by proteinuria, whereas C-terminal variants have been associated with autosomal recessive chronic benign proteinuria. This study aimed to clarify the genetic and clinical characteristics of chronic benign proteinuria and the molecular basis distinguishing it from IGS.

Methods

We evaluated patients with proteinuria carrying biallelic CUBN variants identified through targeted panel sequencing and investigated molecular mechanisms underlying the phenotypic differences between IGS and chronic benign proteinuri

SUBMITTER: Sakakibara N 

PROVIDER: S-EPMC12857354 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature