Mutations in membrane cofactor protein (CD46) gene in Indian children with hemolytic uremic syndrome.

ABSTRACT:

Background

Mutations in the CD46 gene account for an important proportion of patients with atypical hemolytic uremic syndrome (aHUS) who characteristically show multiple relapses, no response to plasma exchange and low recurrence risk in allograft. We screened for mutations in CD46 in patients with and without circulating anti-factor H (FH) antibodies-associated aHUS.

Methods

We estimated CD46 surface expression by flow cytometry and sequenced the CD46 gene in 23 and 56 patients with and without circulating anti-FH antibodies, respectively. Human Splicing Finder and PolyPhen2 were used for in silico prediction of pathogenicity.

Results

Two novel and three known (c.286 +2T > G, c.104G > A and c.565T > G) mutations in CD46 were

SUBMITTER: Khandelwal P 

PROVIDER: S-EPMC5888602 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature