Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

ABSTRACT: Atypical hemolytic uremic syndrome (aHUS) is a life-threatening thrombotic microangiopathy that can progress, when untreated, to end-stage renal disease. Most frequently, aHUS is caused by complement dysregulation due to pathogenic variants in genes that encode complement components and regulators. Among these genes, the factor H (FH) gene, CFH, presents with the highest frequency (15% to 20%) of variants and is associated with the poorest prognosis. Correct classification of CFH variants as pathogenic or benign is essential to clinical care but remains challenging owing to the dearth of functional studies. As a result, significant numbers of variants are reported as variants of uncertain significance. To address this knowledge gap, we expressed and functionally characterized 105 aHUS-asso

SUBMITTER: Martin Merinero H 

PROVIDER: S-EPMC8641096 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature