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The psychiatric phenotypes of 1q21 distal deletion and duplication

Linden, Stefanie C. ORCID:, Watson, Cameron J., Smith, Jacqueline, Chawner, Samuel J. R. A., Lancaster, Thomas M. ORCID:, Evans, Ffion, Williams, Nigel ORCID:, Skuse, David, Raymond, F. Lucy, Hall, Jeremy ORCID:, Owen, Michael J. ORCID:, Linden, David E. J. ORCID:, Green-Snyder, LeeAnne, Chung, Wendy K., Maillard, Anne M., Jacquemont, Sébastien and van den Bree, Marianne B. M. ORCID: 2021. The psychiatric phenotypes of 1q21 distal deletion and duplication. Translational Psychiatry 11 , 105. 10.1038/s41398-021-01226-9

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Copy number variants are amongst the most highly penetrant risk factors for psychopathology and neurodevelopmental deficits, but little information about the detailed clinical phenotype associated with particular variants is available. We present the largest study of the microdeletion and -duplication at the distal 1q21 locus, which has been associated with schizophrenia and intellectual disability, in order to investigate the range of psychiatric phenotypes. Clinical and cognitive data from 68 deletion and 55 duplication carriers were analysed with logistic regression analysis to compare frequencies of mental disorders between carrier groups and controls, and linear mixed models to compare quantitative phenotypes. Both children and adults with copy number variants at 1q21 had high frequencies of psychopathology. In the children, neurodevelopmental disorders were most prominent (56% for deletion, 68% for duplication carriers). Adults had increased prevalence of mood (35% for deletion [OR = 6.6 (95% CI: 1.4–40.1)], 55% for duplication carriers [8.3 (1.4–55.5)]) and anxiety disorders (24% [1.8 (0.4–8.4)] and 55% [10.0 (1.9–71.2)]). The adult group, which included mainly genetically affected parents of probands, had an IQ in the normal range. These results confirm high prevalence of neurodevelopmental disorders associated with CNVs at 1q21 but also reveal high prevalence of mood and anxiety disorders in a high-functioning adult group with these CNVs. Because carriers of neurodevelopmental CNVs who show relevant psychopathology but no major cognitive impairment are not currently routinely receiving clinical genetic services widening of genetic testing in psychiatry may be considered.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Neuroscience and Mental Health Research Institute (NMHRI)
Additional Information: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit
Publisher: Springer Nature
ISSN: 2158-3188
Funders: MRC
Date of First Compliant Deposit: 15 January 2021
Date of Acceptance: 14 January 2021
Last Modified: 11 Oct 2023 19:40

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