title: Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
abstract: Autism spectrum disorders (ASDs) comprise a distinct entity of neurodevelopmental disorders with a strong genetic component. Despite the identification of several candidate genes and causative genomic copy number variations (CNVs), the majority of ASD cases still remain unresolved. We have applied microarray-based comparative genomic hybridization (array-CGH) using Agilent 400K custom array in the first Cyprus population screening for identification of ASD-associated CNVs. A cohort of 50 ASD patients (G1), their parents (G2), 50 ethnically matched normal controls (G3), and 80 normal individuals having children with various developmental and neurological conditions (G4) were tested. As a result, 14 patients were found to carry 20 potentially causative aberrations, two of which were de novo. Comparison of the four population groups revealed an increased rate of rare disease-associated variants in normal parents of children with autism. The above data provided additional evidence, supporting the complexity of ASD aetiology in comparison to other developmental disorders involving cognitive impairment. Furthermore, we have demonstrated the rationale of a more targeted approach combining accurate clinical description with high-resolution population-oriented genomic screening for defining the role of CNVs in autism and identifying meaningful associations on the molecular level.
authors.affiliation: The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus.
authors.forename: Ludmila
authors.initials: L
authors.lastname: Kousoulidou
authors.forename: Maria
authors.initials: M
authors.lastname: Moutafi
authors.forename: Paola
authors.initials: P
authors.lastname: Nicolaides
authors.forename: Stavros
authors.initials: S
authors.lastname: Hadjiloizou
authors.forename: Christos
authors.initials: C
authors.lastname: Christofi
authors.forename: Anna
authors.initials: A
authors.lastname: Paradesiotou
authors.forename: Violetta
authors.initials: V
authors.lastname: Anastasiadou
authors.forename: Carolina
authors.initials: C
authors.lastname: Sismani
authors.forename: Philippos C
authors.initials: PC
authors.lastname: Patsalis
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D003535:Cyprus; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods