A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome

ABSTRACT: Key Points Missense variants in COL4A genes can cause mild forms of Alport syndrome. Combining pathology and genetics with basic science can successfully determine the pathogenicity of variants of uncertain significance. Low-throughput, mechanistic approaches, applied broadly, may provide a critical next step for precision and personalized medicine. Visual Abstract

Background

Missense variants in COL4A genes are often found in patients with an Alport syndrome–like presentation, but their pathogenicity is not always clear. We encountered a woman with microscopic hematuria and proteinuria at 33 years of age with a diagnosis of thin basement membrane disease who was approaching end stage kidney disease at 59 years of age. We hypothesized that this patient’s kidney disease was within

SUBMITTER: Kohler J 

PROVIDER: S-EPMC9717634 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature