Document Details

Document Type : Article In Journal 
Document Title :
Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia
Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia
 
Document Language : English 
Abstract : BACKGROUND: Epilepsy is genetically complex neurological disorder affecting millions of people of different age groups varying in its type and severity. Copy number variants (CNVs) are key players in the genetic etiology of numerous neurodevelopmental disorders and prior findings also revealed that chromosomal aberrations are more susceptible against the pathogenesis of epilepsy. Novel technologies, such as array comparative genomic hybridization (array-CGH), may help to uncover the pathogenic CNVs in patients with epilepsy. RESULTS: This study was carried out by high density whole genome array-CGH analysis with blood DNA samples from a cohort of 22 epilepsy patients to search for CNVs associated with epilepsy. Pathogenic rearrangements which include 6p12.1 microduplications in 5 patients covering a total region of 99.9kb and 7q32.3 microdeletions in 3 patients covering a total region of 63.9kb were detected. Two genes BMP5 and PODXL were located in the predicted duplicated and deleted regions respectively. Furthermore, these CNV findings were confirmed by qPCR. CONCLUSION: We have described, for the first time, several novel CNVs/genes implicated in epilepsy in the Saudi population. These findings enable us to better describe the genetic variations in epilepsy, and could provide a foundation for understanding the critical regions of the genome which might be involved in the development of epilepsy. 
ISSN : 1471-2164 
Journal Name : BMC Genomics 
Volume : 16 
Issue Number : 1 
Publishing Year : 1436 AH
2015 AD 
Article Type : Article 
Added Date : Tuesday, April 26, 2016 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Muhammad Imran NaseerNaseer, Muhammad ImranInvestigator mimrannaseer@yahoo.com
Muhammad FaheemFaheem, Muhammad Researcher  
Adeel G ChaudharyChaudhary, Adeel GResearcher  
Taha A KumosaniKumosani, Taha AResearcher  
Maha Mohsin Al-QuaitiAl-Quaiti, Maha MohsinResearcher  
Mohammed M JanJan, Mohammed MResearcher  
Hasan Saleh JamalJamal, Hasan SalehResearcher  
Mohammad H Al-QahtaniAl-Qahtani, Mohammad HResearcher  

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