4.7 Article

The psychiatric phenotypes of 1q21 distal deletion and duplication

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TRANSLATIONAL PSYCHIATRY
卷 11, 期 1, 页码 -

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SPRINGERNATURE
DOI: 10.1038/s41398-021-01226-9

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资金

  1. UK National Health Service (NHS) medical genetic clinics
  2. Wellcome Trust Strategic Award Defining endophenotypes from integrative neuroscience (DEFINE) [100202/Z/12/Z]
  3. Medical Research Council [MR/N022572/1, MR/L011166/1]
  4. Baily Thomas Charitable Trust [2315/1]
  5. Waterloo Foundation [918-1234]
  6. Wellcome Trust ISSF grant
  7. Medical Research Council Centre grant [G0801418]
  8. Medical Research Council Programme grant [G0800509]
  9. National Centre for Mental Health - Health and Care Research Wales (HCRW)
  10. Swiss National Science Foundation (SNSF) [PMPDP3_171331]
  11. Canada Research Chairs Programme
  12. Brain Canada MultiInvestigator Research Initiative
  13. Simons Foundation Autism Research Initiative (SFARI)
  14. MRC [MR/N022572/1, MR/L011166/1, MR/T033045/1] Funding Source: UKRI
  15. Swiss National Science Foundation (SNF) [PMPDP3_171331] Funding Source: Swiss National Science Foundation (SNF)

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Copy number variants at the distal 1q21 locus are associated with high frequencies of psychopathology, with children showing predominantly neurodevelopmental disorders and adults demonstrating increased prevalence of mood and anxiety disorders. These findings suggest the importance of widening genetic testing in psychiatry, as carriers of neurodevelopmental CNVs with relevant psychopathology but no major cognitive impairment may not be receiving clinical genetic services routinely.
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.

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