Candidate Genetic Modifiers in Alport Syndrome: A Case Series.

ABSTRACT:

Background

Alport syndrome (AS) is one of the most common monogenic kidney disorders. Recent studies have highlighted the modifier effect of variants involving podocyte and non-collagenous extracellular matrix (ECM) proteins in AS.

Methods

We report a case series of eight patients with genetically proven AS and simultaneous variants involving podocyte and non-collagenous ECM proteins. Our aim is to describe the influence of such variants on the phenotype of patients with AS.

Results

We identified 10 different type IV collagen variants. Patients were diagnosed with autosomal dominant (3/8), autosomal recessive (2/8), digenic (2/8) and X-linked AS (1/8). There were eight different variants involving podocyte and non-collagenous ECM proteins. The genes involved were CRB2

SUBMITTER: Lujinschi SN 

PROVIDER: S-EPMC11857524 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature