Identification of a new CD46 gene mutation site in a family with atypical hemolytic uremic syndrome.

ABSTRACT:

Background

Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy resulting from the dysregulation of the alternative complement pathway. Pathogenic variants in complement regulators (e.g., CFH, CFI, CD46, THBD), effectors (C3, CFB), CFHR genes, and non-complement genes (e.g., DGKE, INF2), as well as anti-factor H autoantibodies, play significant roles in disease pathogenesis. Furthermore, numerous CFH-CFHR hybrid genes are increasingly recognized as significant contributors to aHUS pathogenesis. Among these, epidemiological data on CD46-associated aHUS remain limited. Here, we present a case of aHUS associated with a rare novel homozygous mutation in the CD46 gene (c.1127 + 2T > A).

Case presentation

We present a case of a 27-year-old Chinese male diagnos

SUBMITTER: Hu B 

PROVIDER: S-EPMC12455758 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature