Abstract
BackgroundEpilepsy 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.ResultsThis 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.ConclusionWe 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.
Highlights
Epilepsy is genetically complex neurological disorder affecting millions of people of different age groups varying in its type and severity
Databases of normal and pathogenic genome variations are available on the web and are extremely valuable tools for interpreting Copy number variants (CNVs) identified in patients (Database of Genomic Variants: DGV; Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources: DECIPHER)
Experimental embryos showed a loss of basal telencephalon due to implantation of beads soaked in recombinant bone morphogenetic protein-5 (BMP5) or BMP4 into neural tube of chicken forebrain that resulted in holoprosencephaly, cyclopia and loss of ventral midline structures [17]
Summary
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 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. We selected a cohort of 22 patients with different types of epilepsies and performed high density whole genome array-CGH which showed novel CNVs/genes deletion and duplication that might be the contributory factors in the genetic etiology of epilepsy
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