Novel pathogenic variants in CUBN uncouple proteinuria from renal function.

ABSTRACT:

Background

Proteinuria is an unfavorable clinical condition highly associated with a risk of renal and cardiovascular disease in chronic kidney disease (CKD). However, whether all proteinuria forms are linked to renal impairment are still unclear. Cubilin is an endocytic receptor highly expressed in renal proximal tubules mediating uptake of albumin, transferrin and α1-microglobulin.

Methods

Exome sequencing method initially identified candidate genes. With the application of exome sequencing combined with Sanger sequencing, we further focused on CUBN through bioinformatics analysis. The pathogenic effects of the potentially causative variants were verified utilizing complementary analysis of clinical data and systematic characterization of the variants' expression and funct

SUBMITTER: Gan C 

PROVIDER: S-EPMC9583559 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature