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Whole exome sequencing in a sample of Egyptian patients with covert cerebral small vessel disease

Published version
Peer-reviewed

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Authors

Aref, H 
Roushdy, T 
Shokri, H 
Hamid, E 

Abstract

jats:titleAbstract</jats:title>jats:sec jats:titleBackground</jats:title> jats:pCovert cerebral small vessel disease (cCSVD) is associated with many age-related morbidities with little available data regarding the pathophysiology and role of genetics in it. This study aims to investigate the genetic load in a sample of Egyptian patients with cCSVD.</jats:p> </jats:sec>jats:sec jats:titleResults</jats:title> jats:pThirty patients with cCSVD were recruited and underwent cognitive, gait, sphincter assessment, magnetic resonance imaging (MRI) brain, and blood sampling for whole exome sequencing. The mean age for the patients was 65.93 ± 8.8 with male patients representing 63.33% of the studied sample. The major risk factor was hypertension followed by diabetes mellitus, dyslipidaemia, and smoking. The main presenting symptom was cognitive impairment, found in 60% of the patients and the mean duration of symptoms was 2.1 ± 1.12 years. Two out of thirty patients were positive for a known pathogenic gene (NOTCH3 and COL4A1) despite the absence of family history in one representing 6.7% of the entire studied sample. Meanwhile, three patients had variant genes not previously linked to cCSVD.</jats:p> </jats:sec>jats:sec jats:titleConclusions</jats:title> jats:pWhole exome sequencing and genetic studying of patients with cCSVD is of utmost importance as the genetic load is underestimated in the Egyptian population.</jats:p> </jats:sec>

Description

Acknowledgements: This paper is based on work supported by Science. Technology & Innovation Funding Authority (STDF) under grant (38194).

Keywords

31 Biological Sciences, 42 Health Sciences, 3105 Genetics, Neurodegenerative, Prevention, Genetics, Brain Disorders, Clinical Research, Neurosciences, Cerebrovascular, Biomedical Imaging, Human Genome, Minority Health, Acquired Cognitive Impairment, Behavioral and Social Science, 2 Aetiology, 2.1 Biological and endogenous factors, Cardiovascular

Journal Title

Egyptian Journal of Neurology, Psychiatry and Neurosurgery

Conference Name

Journal ISSN

1110-1083
1687-8329

Volume Title

Publisher

Springer Science and Business Media LLC
Sponsorship
Science and Technology Development Fund (STDF) (38194)