title: Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.
abstract: Epilepsy is a common finding in patients with chromosomal macro- and micro-rearrangements but only few aberrations show a constant pattern of seizures. DNA array-based studies have reported causative copy number variations (CNVs) in 5-30% of patients with epilepsy with or without co-morbidities. The interpretation of many of the detected CNVs remains challenging. In order to identify CNVs carrying epilepsy-related genes we investigated 43 children with various patterns of epileptic seizures, intellectual disability (ID), and minor dysmorphism, using the Illumina® Infinium Human1M-DuoV1 array. In three patients we found likely causative de novo CNVs, i.e. deletions in 1q41q42.12 (3.4 Mb) and 19p13.2 (834 kb), and a mosaic two-segment duplication in 17p13.2 (218 kb) and 17p13.1 (422 kb). In six additional patients there were aberrations (a deletion in one and duplications in five patients) with uncertain clinical consequences. In total, the finding of causative chromosomal micro-rearrangements in 3 out of 43 patients (7%) and potentially causative CNVs in 6 additional patients (14%) with epilepsy and ID but without major malformations confirms the power of DNA arrays for the detection of new disease-related genetic regions.
authors.affiliation: Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: A
authors.initials: A
authors.lastname: Spreiz
authors.forename: E
authors.initials: E
authors.lastname: Haberlandt
authors.forename: M
authors.initials: M
authors.lastname: Baumann
authors.forename: S
authors.initials: S
authors.lastname: Baumgartner Sigl
authors.forename: C
authors.initials: C
authors.lastname: Fauth
authors.forename: K
authors.initials: K
authors.lastname: Gautsch
authors.forename: D
authors.initials: D
authors.lastname: Karall
authors.forename: C
authors.initials: C
authors.lastname: Janetschek
authors.forename: K
authors.initials: K
authors.lastname: Rostasy
authors.forename: S
authors.initials: S
authors.lastname: Scholl-Bürgi
authors.forename: S
authors.initials: S
authors.lastname: Zotter
authors.forename: G
authors.initials: G
authors.lastname: Utermann
authors.forename: J
authors.initials: J
authors.lastname: Zschocke
authors.forename: D
authors.initials: D
authors.lastname: Kotzot
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D059785:Karyotype; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
keywords: SNP array; deletion; duplication; epilepsy; intellectual disability