title: Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
abstract: Copy-number variants (CNVs) collectively represent an important cause of neurodevelopmental disorders such as developmental delay (DD)/intellectual disability (ID), autism, and epilepsy. In contrast to DD/ID, for which the application of microarray techniques enables detection of pathogenic CNVs in -10-20% of patients, there are only few studies of the role of CNVs in epilepsy and genetic etiology in the vast majority of cases remains unknown. We have applied whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) to a cohort of 102 patients with various types of epilepsy with or without additional neurodevelopmental abnormalities. Chromosomal microarray analysis revealed 24 non-polymorphic CNVs in 23 patients, among which 10 CNVs are known to be clinically relevant. Two rare deletions in 2q24.1q24.3, including KCNJ3 and 9q21.13 are novel pathogenic genetic loci and 12 CNVs are of unknown clinical significance. Our results further support the notion that rare CNVs can cause different types of epilepsy, emphasize the efficiency of detecting novel candidate genes by whole-genome array CGH, and suggest that the clinical application of array CGH should be extended to patients with unexplained epilepsies.
authors: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors: Magdalena
authors: M
authors: Bartnik
authors: Elżbieta
authors: E
authors: Szczepanik
authors: Katarzyna
authors: K
authors: Derwińska
authors: Barbara
authors: B
authors: Wiśniowiecka-Kowalnik
authors: Tomasz
authors: T
authors: Gambin
authors: Maciej
authors: M
authors: Sykulski
authors: Kamila
authors: K
authors: Ziemkiewicz
authors: Marta
authors: M
authors: Kędzior
authors: Monika
authors: M
authors: Gos
authors: Dorota
authors: D
authors: Hoffman-Zacharska
authors: Tomasz
authors: T
authors: Mazurczak
authors: Anetta
authors: A
authors: Jeziorek
authors: Dorota
authors: D
authors: Antczak-Marach
authors: Mariola
authors: M
authors: Rudzka-Dybała
authors: Hanna
authors: H
authors: Mazurkiewicz
authors: Alicja
authors: A
authors: Goszczańska-Ciuchta
authors: Zofia
authors: Z
authors: Zalewska-Miszkurka
authors: Iwona
authors: I
authors: Terczyńska
authors: Małgorzata
authors: M
authors: Sobierajewicz
authors: Chad A
authors: CA
authors: Shaw
authors: Anna
authors: A
authors: Gambin
authors: Hanna
authors: H
authors: Mierzewska
authors: Tadeusz
authors: T
authors: Mazurczak
authors: Ewa
authors: E
authors: Obersztyn
authors: Ewa
authors: E
authors: Bocian
authors: Paweł
authors: P
authors: Stankiewicz
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000150:complications / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization / Q000379:methods; D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics*; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D005091:Exons; D018628:Gene Dosage; D015894:Genome, Human; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male