Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.

ABSTRACT:

Introduction

Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a relatively common cerebral small vessel disease. NOTCH3 has been identified as the causative gene of CADASIL. Clinical variability and genetic heterogeneity were observed in CADASIL patients and need to be further clarified.

Aims

The aim of the study was to clarify genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients.

Methods

Suspected CADASIL patients were collected by our center between 2016 and 2021. Whole exome sequencing was performed to screen NOTCH3 mutations of these patients. Genetic and clinical data of CADASIL patients from previous studies were also analyzed. Studies between 1998 and 2021 that reported more than 9 pedigree

SUBMITTER: Ni W 

PROVIDER: S-EPMC9532899 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature