Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH

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 m...

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Main Authors: Ludmila Kousoulidou, Maria Moutafi, Paola Nicolaides, Stavros Hadjiloizou, Christos Christofi, Anna Paradesiotou, Violetta Anastasiadou, Carolina Sismani, Philippos C. Patsalis
Format: Article
Language:English
Published: Hindawi Limited 2013-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2013/843027
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spelling doaj-64eec89bedd94b41a67d34372b9302242020-11-24T23:45:21ZengHindawi LimitedBioMed Research International2314-61332314-61412013-01-01201310.1155/2013/843027843027Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGHLudmila Kousoulidou0Maria Moutafi1Paola Nicolaides2Stavros Hadjiloizou3Christos Christofi4Anna Paradesiotou5Violetta Anastasiadou6Carolina Sismani7Philippos C. Patsalis8The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, CyprusThe Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, CyprusThe Cyprus Paediatric Neurology Institute, 2047 Nicosia, CyprusThe Cyprus Paediatric Neurology Institute, 2047 Nicosia, CyprusThe Cyprus Paediatric Neurology Institute, 2047 Nicosia, CyprusArchbishop Makareios III Hospital, 2012 Nicosia, CyprusThe Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, CyprusThe Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, CyprusThe Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, CyprusAutism 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.http://dx.doi.org/10.1155/2013/843027
collection DOAJ
language English
format Article
sources DOAJ
author Ludmila Kousoulidou
Maria Moutafi
Paola Nicolaides
Stavros Hadjiloizou
Christos Christofi
Anna Paradesiotou
Violetta Anastasiadou
Carolina Sismani
Philippos C. Patsalis
spellingShingle Ludmila Kousoulidou
Maria Moutafi
Paola Nicolaides
Stavros Hadjiloizou
Christos Christofi
Anna Paradesiotou
Violetta Anastasiadou
Carolina Sismani
Philippos C. Patsalis
Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH
BioMed Research International
author_facet Ludmila Kousoulidou
Maria Moutafi
Paola Nicolaides
Stavros Hadjiloizou
Christos Christofi
Anna Paradesiotou
Violetta Anastasiadou
Carolina Sismani
Philippos C. Patsalis
author_sort Ludmila Kousoulidou
title Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH
title_short Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH
title_full Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH
title_fullStr Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH
title_full_unstemmed Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH
title_sort screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400k custom array-cgh
publisher Hindawi Limited
series BioMed Research International
issn 2314-6133
2314-6141
publishDate 2013-01-01
description 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.
url http://dx.doi.org/10.1155/2013/843027
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