Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders
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 tho...
| Main Authors: | , , , , , , , , , , |
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| Format: | Journal Article |
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Cambridge University Press
2018
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| Online Access: | http://hdl.handle.net/20.500.11937/66412 |
| _version_ | 1848761315349233664 |
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| author | Stamouli, S. Anderlid, B. Willfors, C. Thiruvahindrapuram, B. Wei, J. Berggren, S. Nordgren, A. Scherer, S. Lichtenstein, P. Tammimies, K. Bolte, Sven |
| author_facet | Stamouli, S. Anderlid, B. Willfors, C. Thiruvahindrapuram, B. Wei, J. Berggren, S. Nordgren, A. Scherer, S. Lichtenstein, P. Tammimies, K. Bolte, Sven |
| author_sort | Stamouli, S. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T10:29:43Z |
| format | Journal Article |
| id | curtin-20.500.11937-66412 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T10:29:43Z |
| publishDate | 2018 |
| publisher | Cambridge University Press |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-664122018-04-30T02:48:45Z Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders Stamouli, S. Anderlid, B. Willfors, C. Thiruvahindrapuram, B. Wei, J. Berggren, S. Nordgren, A. Scherer, S. Lichtenstein, P. Tammimies, K. Bolte, Sven 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. 2018 Journal Article http://hdl.handle.net/20.500.11937/66412 10.1017/thg.2017.69 Cambridge University Press restricted |
| spellingShingle | Stamouli, S. Anderlid, B. Willfors, C. Thiruvahindrapuram, B. Wei, J. Berggren, S. Nordgren, A. Scherer, S. Lichtenstein, P. Tammimies, K. Bolte, Sven Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders |
| title | Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders |
| title_full | Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders |
| title_fullStr | Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders |
| title_full_unstemmed | Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders |
| title_short | Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders |
| title_sort | copy number variation analysis of 100 twin pairs enriched for neurodevelopmental disorders |
| url | http://hdl.handle.net/20.500.11937/66412 |