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    Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

    Access Status
    Fulltext not available
    Authors
    Stamouli, S.
    Anderlid, B.
    Willfors, C.
    Thiruvahindrapuram, B.
    Wei, J.
    Berggren, S.
    Nordgren, A.
    Scherer, S.
    Lichtenstein, P.
    Tammimies, K.
    Bolte, Sven
    Date
    2018
    Type
    Journal Article
    
    Metadata
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    Citation
    Stamouli, S. and Anderlid, B. and Willfors, C. and Thiruvahindrapuram, B. and Wei, J. and Berggren, S. and Nordgren, A. et al. 2018. Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders. Twin Research and Human Genetics: pp. 1-11.
    Source Title
    Twin Research and Human Genetics
    DOI
    10.1017/thg.2017.69
    ISSN
    1832-4274
    School
    School of Occ Therapy, Social Work and Speech Path
    URI
    http://hdl.handle.net/20.500.11937/66412
    Collection
    • Curtin Research Publications
    Abstract

    Copyright © The Author(s) 2018 Hundreds of penetrant risk loci have been identified across different neurodevelopmental disorders (NDDs), and these often involve rare ( < 1% frequency) copy number variations (CNVs), which can involve one or more genes. Monozygotic (MZ) twin pairs are long thought to share 100% of their genomic information. However, genetic differences in the form of postzygotic somatic variants have been reported recently both in typically developing (TD) and in clinically discordant MZ pairs. We sought to investigate the contribution of rare CNVs in 100 twin pairs enriched for NDD phenotypes with a particular focus on postzygotic CNVs in MZ pairs discordant for autism spectrum disorder (ASD) using the Illumina Infinium PsychArray. In our sample, no postzygotic de novo CNVs were found in 55 MZ twin pairs, including the 13 pairs discordant for ASD. We did detect a higher rate of CNVs overlapping genes involved in disorders of the nervous system, such as a rare deletion affecting HNRNPU, in MZ pairs discordant and concordant for ASD in comparison with TD pairs (p = .02). Our results are in concordance with earlier findings that postzygotic de novo CNV events are typically rare in genomic DNA derived from saliva or blood, and suggests that the discordance of NDDs in our sample of twins is not explained by discordant CNVs. Still, studies investigating postzygotic variation in MZ discordant twins using DNA from different tissues and single cells and higher resolution genomics are needed in the future.

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