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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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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