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

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


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>


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


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

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Egyptian Journal of Neurology, Psychiatry and Neurosurgery

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