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Title:
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Absence of substantial copy number differences in a pair of monozygotic twins discordant for features of autism spectrum disorder
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Author:
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Laplana Lafaja, Marina; Royo Sánchez-Palencia, José Luis; Aluja Fabregat, Antón; López, Ricard; Heine-Suñer, Damià; Fibla Palazón, Joan
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Notes:
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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. |
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Rights:
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cc-by, (c) Laplana et al., 2014
http://creativecommons.org/licenses/by/3.0/es/
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Document type:
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article
publishedVersion |
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Published by:
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Hindawi Publishing Corporation
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Share:
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