Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome.

ABSTRACT:

Introduction

Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy. Personal genome analyses have revealed numerous aHUS-causing variants, mainly complement-related genes. However, not all aHUS-causing variants have been functionally validated.

Methods

An exome sequence analysis of a Japanese multiplex family composed of three patients diagnosed with aHUS in infancy and showing frequent relapses clustered in a dominant transmission mode was performed. Protein interaction between the C3d and C-terminal domains of factor H was analyzed using a quartz crystal microbalance.

Results

Following filtering by heterozygous variants, amino acid substitutions, and allele frequency, the analysis revealed eight rare variants shared by the affected i

SUBMITTER: Tsuchida M 

PROVIDER: S-EPMC10767574 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature