Altered DNA copy number in patients with different seizure disorder type: by array-CGH.
Epilepsy is one of the most common but genetically complex neurological disorders in children. Previous studies have showed that chromosomal abnormalities confer susceptibility to epilepsy. To identify new chromosomal abnormalities associated with epilepsy, DNA samples from patients with idiopathic generalized epilepsy (IGE), partial epilepsy (PE), and febrile seizures (FS) were analyzed using array comparative genome hybridization technique (array-CGH). Genomic aberrations were detected throughout whole chromosome. The most frequently altered loci were gains noted in: 1p (60%), 5p (55%), 8q (55%), 10q (55%), and losses in 7q (55%). The most frequent chromosomal aberrations for each seizure type were: IGE-1p (60%), 5p (55%), and 10q (55%), PE-11p (45%), 21q (45%) and FS-8q (55%), and losses in 7q (55%). To validate the array-CGH results, real time PCR was performed for several genes (EPM2AIP1, OSM, AFP, CYP19A1, SLC6A13, and COL6A2). The results from the real time PCR were consistent with those from the array-CGH. Therefore, we found that the three types of seizures disorder studied have different chromosomal aberrations. These results might be used for further investigation of the pathogenesis of epilepsy.
Kim
Hye Sung
HS
Catholic Neuroscience Center, The Catholic University of Korea, Seoul 137-701, Republic of Korea.
Yim
Sung-Vin
SV
Jung
Kyung Hee
KH
Zheng
Long Tai
LT
Kim
Young-Hoon
YH
Lee
Kweon-Haeng
KH
Chung
Seung-Yun
SY
Rha
Hyoung Kyun
HK
D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002874:Chromosome Mapping / Q000379:methods*; D020732:Cytogenetic Analysis / Q000379:methods; D004827:Epilepsy / Q000145:classification* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods*; D016133:Polymerase Chain Reaction