The psychiatric phenotypes of 1q21 distal deletion and duplication

Autor: Jeremy Hall, David Skuse, Ffion Evans, Anne M. Maillard, Michael John Owen, F. Lucy Raymond, David Edmund Johannes Linden, Lee Anne Green-Snyder, Thomas M. Lancaster, Sébastien Jacquemont, Samuel J.R.A. Chawner, Stefanie C. Linden, Nigel Williams, Jacqueline Smith, Marianne Bernadette van den Bree, Cameron Watson, Wendy K. Chung
Přispěvatelé: Linden, Stefanie C. [0000-0003-2120-3811], Watson, Cameron J. [0000-0003-2346-4636], Smith, Jacqueline [0000-0002-2191-5571], Chawner, Samuel J. R. A. [0000-0002-2590-2874], Skuse, David [0000-0002-7891-5732], Owen, Michael J. [0000-0003-4798-0862], Maillard, Anne M. [0000-0002-4811-0693], Jacquemont, Sébastien [0000-0001-6838-8767], van den Bree, Marianne B. M. [0000-0002-4426-3254], Apollo - University of Cambridge Repository, Linden, Stefanie C [0000-0003-2120-3811], Watson, Cameron J [0000-0003-2346-4636], Chawner, Samuel JRA [0000-0002-2590-2874], Owen, Michael J [0000-0003-4798-0862], Maillard, Anne M [0000-0002-4811-0693], van den Bree, Marianne BM [0000-0002-4426-3254], RS: CAPHRI - R4 - Health Inequities and Societal Participation, Metamedica, School for Mental Health & Neuroscience, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, RS: MHeNs - R2 - Mental Health, RS: MHeNs - R3 - Neuroscience
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Adult
Proband
medicine.medical_specialty
DNA Copy Number Variations
45/61
Article
lcsh:RC321-571
03 medical and health sciences
Cellular and Molecular Neuroscience
0302 clinical medicine
Intellectual Disability
Intellectual disability
Gene duplication
medicine
Humans
Copy-number variation
Clinical genetics
Child
Psychiatry
lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry
Biological Psychiatry
692/699/476
030304 developmental biology
Genetic testing
0303 health sciences
medicine.diagnostic_test
692/420/2489
45
business.industry
medicine.disease
Anxiety Disorders
humanities
3. Good health
Psychiatry and Mental health
Phenotype
Neurodevelopmental Disorders
Schizophrenia
Anxiety
Chromosome Deletion
medicine.symptom
business
Psychiatric disorders
030217 neurology & neurosurgery
Psychopathology
Zdroj: Translational Psychiatry
Translational Psychiatry, 11(1):105. Nature Publishing Group
Translational Psychiatry, Vol 11, Iss 1, Pp 1-10 (2021)
ISSN: 2158-3188
Popis: 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.
Databáze: OpenAIRE
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