Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a highly heritable disease (~0.9) with a complex genetic etiology. It is initially characterized by altered cognitive ability which commonly includes impaired language and communication skills as well as fundamental deficits in social interaction. Despite the large...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2014/516529 |
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| author | Marina Laplana José Luis Royo Anton Aluja Ricard López Damiàn Heine-Sunyer Joan Fibla |
| author_facet | Marina Laplana José Luis Royo Anton Aluja Ricard López Damiàn Heine-Sunyer Joan Fibla |
| author_sort | Marina Laplana |
| collection | DOAJ |
| description | Autism spectrum disorder (ASD) is a highly heritable disease (~0.9) with a complex genetic etiology. It is initially characterized by altered cognitive ability which commonly includes impaired language and communication skills as well as fundamental deficits in social interaction. Despite the large amount of studies described so far, the high clinical diversity affecting the autism phenotype remains poorly explained. Recent studies suggest that rare genomic variations, in particular copy number variation (CNV), may account for a significant proportion of the genetic basis of ASD. The use of disease-discordant monozygotic twins represents a powerful strategy to identify de novo and inherited CNV in the disorder. Here we present the results of a comparative genome hybridization (CGH) analysis with a pair of monozygotic twins affected of ASD with significant differences in their clinical manifestations that specially affect speech language impairment and communication skills. Array CGH was performed in three different tissues: blood, saliva, and hair follicle, in an attempt to identify germinal and somatic CNV regions that may explain these differences. Our results argue against a role of large CNV rearrangements as a molecular etiology of the observed differences. This forwards future research to explore de novo point mutation and epigenomic alterations as potential explanations of the observed clinical differences. |
| format | Article |
| id | doaj-art-1aa28984da02497cb94f43edde21f6a1 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-1aa28984da02497cb94f43edde21f6a12025-02-03T01:09:29ZengWileyCase Reports in Genetics2090-65442090-65522014-01-01201410.1155/2014/516529516529Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum DisorderMarina Laplana0José Luis Royo1Anton Aluja2Ricard López3Damiàn Heine-Sunyer4Joan Fibla5Human Genetic Unit, Department of Basic Medical Sciences, University of Lleida, 25198 Lleida, Catalonia, SpainHuman Genetic Unit, Department of Basic Medical Sciences, University of Lleida, 25198 Lleida, Catalonia, SpainBiological-Factorial Models of Personality, Department of Psychology, University of Lleida, 25001 Lleida, Catalonia, SpainHuman Genetic Unit, Department of Basic Medical Sciences, University of Lleida, 25198 Lleida, Catalonia, SpainDepartment of Genetics, Son Espases University Hospital, 07120 Palma de Mallorca, SpainHuman Genetic Unit, Department of Basic Medical Sciences, University of Lleida, 25198 Lleida, Catalonia, SpainAutism spectrum disorder (ASD) is a highly heritable disease (~0.9) with a complex genetic etiology. It is initially characterized by altered cognitive ability which commonly includes impaired language and communication skills as well as fundamental deficits in social interaction. Despite the large amount of studies described so far, the high clinical diversity affecting the autism phenotype remains poorly explained. Recent studies suggest that rare genomic variations, in particular copy number variation (CNV), may account for a significant proportion of the genetic basis of ASD. The use of disease-discordant monozygotic twins represents a powerful strategy to identify de novo and inherited CNV in the disorder. Here we present the results of a comparative genome hybridization (CGH) analysis with a pair of monozygotic twins affected of ASD with significant differences in their clinical manifestations that specially affect speech language impairment and communication skills. Array CGH was performed in three different tissues: blood, saliva, and hair follicle, in an attempt to identify germinal and somatic CNV regions that may explain these differences. Our results argue against a role of large CNV rearrangements as a molecular etiology of the observed differences. This forwards future research to explore de novo point mutation and epigenomic alterations as potential explanations of the observed clinical differences.http://dx.doi.org/10.1155/2014/516529 |
| spellingShingle | Marina Laplana José Luis Royo Anton Aluja Ricard López Damiàn Heine-Sunyer Joan Fibla Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder Case Reports in Genetics |
| title | Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder |
| title_full | Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder |
| title_fullStr | Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder |
| title_full_unstemmed | Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder |
| title_short | Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder |
| title_sort | absence of substantial copy number differences in a pair of monozygotic twins discordant for features of autism spectrum disorder |
| url | http://dx.doi.org/10.1155/2014/516529 |
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