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Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH
Joint Authors
Moutafi, Maria
Patsalis, Philippos C.
Kousoulidou, Ludmila
Nicolaides, Paola
Hadjiloizou, Stavros
Christofi, Christos
Paradesiotou, Anna
Anastasiadou, Violetta
Sismani, Carolina
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-10-24
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Kousoulidou, Ludmila& Moutafi, Maria& Nicolaides, Paola& Hadjiloizou, Stavros& Christofi, Christos& Paradesiotou, Anna…[et al.]. 2013. Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH. BioMed Research International،Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-1030993
Modern Language Association (MLA)
Kousoulidou, Ludmila…[et al.]. Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH. BioMed Research International No. 2013 (2013), pp.1-5.
https://search.emarefa.net/detail/BIM-1030993
American Medical Association (AMA)
Kousoulidou, Ludmila& Moutafi, Maria& Nicolaides, Paola& Hadjiloizou, Stavros& Christofi, Christos& Paradesiotou, Anna…[et al.]. Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-1030993
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1030993