Imaging-based pregenetic screening for NOTCH3 p.R544C mutation in ischemic stroke in Taiwan.

ABSTRACT:

Objective

To develop an easily applicable screening score to guide NOTCH3 p.R544C genetic testing for patients who presented with acute ischemic cerebrovascular events in Taiwan.

Methods

1734 patients who presented with ischemic cerebrovascular events were enrolled from the Formosa Stroke Genetic Consortium stroke registry and were screened for the NOTCH3 p.R544C mutation. Clinical and MRI characteristics of NOTCH3 p.R544C mutation carriers (n = 36) and a subset of noncarriers (n = 673) were tested in a logistic regression model to identify key features associated with the NOTCH3 p.R544C carrier status. Variables and their odds ratios in the regression model were used to develop the R544C screening score to predict positive NOTCH3 p.R544C test results.

Results

We cons

SUBMITTER: Cheng YW 

PROVIDER: S-EPMC7545606 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature