Copy-number variants in the contactin-5 gene are a potential risk factor for autism spectrum disorder
Background - Contactin-5 (CNTN5) is a candidate risk gene for autism spectrum disorder (ASD). Previous attempts to associate CNTN5 CNVs with ASD-susceptibility were limited by insufficient statistical power. Here, we aim to clarify the putative association between CNTN5 CNVs and ASD-risk using large...
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
20 October 2022
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| In: |
Research in autism spectrum disorders
Year: 2022, Jahrgang: 99, Pages: 1-12 |
| ISSN: | 1878-0237 |
| DOI: | 10.1016/j.rasd.2022.102055 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.rasd.2022.102055 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1750946722001428 
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| Verfasserangaben: | Zoe Schmilovich, Guillaume Huguet, Qin He, Amélie Musa-Johnson, Elise Douard, Mor Absa Loum, Calwing Liao, Jay P. Ross, Alexandre Dionne-Laporte, Dan Spiegelman, Martineau Jean-Louis, Zohra Saci, Caroline Hayward, Tobias Banaschewski, Arun Bokde, Sylvane Desrivieres, Herve Lemaitre, Gunter Schumann, Lan Xiong, Patrick A. Dion, Sébastien Jacquemont, Boris Chaumette, Guy A. Rouleau |
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| 245 | 1 | 0 | |a Copy-number variants in the contactin-5 gene are a potential risk factor for autism spectrum disorder |c Zoe Schmilovich, Guillaume Huguet, Qin He, Amélie Musa-Johnson, Elise Douard, Mor Absa Loum, Calwing Liao, Jay P. Ross, Alexandre Dionne-Laporte, Dan Spiegelman, Martineau Jean-Louis, Zohra Saci, Caroline Hayward, Tobias Banaschewski, Arun Bokde, Sylvane Desrivieres, Herve Lemaitre, Gunter Schumann, Lan Xiong, Patrick A. Dion, Sébastien Jacquemont, Boris Chaumette, Guy A. Rouleau |
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| 520 | |a Background - Contactin-5 (CNTN5) is a candidate risk gene for autism spectrum disorder (ASD). Previous attempts to associate CNTN5 CNVs with ASD-susceptibility were limited by insufficient statistical power. Here, we aim to clarify the putative association between CNTN5 CNVs and ASD-risk using large-scale case-control analyses. - Method - A CNTN5 CNV, shared by four brothers in a multiplex family with ASD, was initially identified. We calculated the prevalence and transmission of CNTN5 CNVs in cases across five ASD cohorts (n=15,784). Second, we compared the prevalence of CNTN5 CNVs in cases to their unaffected siblings (n=4,996). Third, we assessed the enrichment of CNTN5 CNVs in cases to extrafamilial controls across three cohorts (n=24,886) and the UK Biobank (n = 459,862). Finally, we evaluated the clinical impact of CNTN5 CNVs in a broad neurodevelopmental disorder cohort and the DECIPHER database. - Results - Most (96.7%) CNTN5 CNV deletions (0.193%) and duplications (0.03%) in cases were inherited by a parent that transmitted the variant to their affected and unaffected children at the same rate. We identified a significant enrichment of intronic CNTN5 CNV deletions in cases compared to extrafamilial controls (0.178% versus 0.019%; p-value=1.68E-05; OR:8.51; 95%CI=[2.58-44.21]). There was no difference in CNTN5 CNV enrichment between cases and individuals with NDDs. - Conclusions - Intronic CNTN5 CNV deletions are rare, inherited, and intermediate effect size ASD-susceptibility variants that may also confer risk for other neuropsychiatric disorders. We offer a framework to characterize candidate variants that may not be detected through small-scale approaches to implicate intermediate effect size variants in the etiology of ASD. | ||
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| 650 | 4 | |a CNV | |
| 650 | 4 | |a inherited | |
| 650 | 4 | |a intronic deletions | |
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