Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

Research output: Contribution to journalResearch articleContributedpeer-review


  • ENIGMA-CNV Working Group - (Author)
  • Division of Psychological and Social Medicine and Developmental Neurosciences
  • University of Oslo
  • University of Tübingen
  • German Center for Mental Health (DZPG) - Partner site Tübingen
  • Maastricht University
  • Diakonhjemmet Hospital
  • Karolinska Institutet
  • University of Melbourne
  • National Ageing Research Institute
  • Umeå University
  • Curtin University
  • École normale supérieure Paris-Saclay
  • Etablissement Public de Santé (EPS) Barthélemy Durand
  • University of Newcastle
  • Hunter Medical Research Institute (HMRI)
  • University of Oxford
  • University of Münster
  • Vita-Salute San Raffaele University
  • Vrije Universiteit Amsterdam (VU)
  • University of New South Wales
  • University of Marburg
  • Harvard University
  • Georgia Institute of Technology
  • Jülich Research Centre
  • Heinrich Heine University Düsseldorf
  • University of Basel
  • Trinity College Dublin
  • Hospital Universitario Virgen del Rocio
  • CIBER - Center for Biomedical Research Network
  • University of Seville
  • University of Bonn
  • Queensland University of Technology
  • King's College London (KCL)
  • Cardiff University
  • University of Galway
  • Max Planck Institute for Psycholinguistics
  • Oslo New University College
  • Radboud University Nijmegen
  • Université Paris-Saclay
  • National Institutes of Natural Sciences - National Institute for Physiological Sciences
  • University of Greifswald
  • Neuroscience Research Australia
  • University of Cape Town
  • Norwegian University of Science and Technology
  • National Center of Neurology and Psychiatry Kodaira
  • Princess Máxima Center for Pediatric Oncology
  • Rutgers - The State University of New Jersey, New Brunswick


Background: Carriers of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants exhibit regional and global brain differences compared with noncarriers. However, interpreting regional differences is challenging if a global difference drives the regional brain differences. Intraindividual variability measures can be used to test for regional differences beyond global differences in brain structure. Methods: Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n = 30) and duplication (n = 27) and 15q11.2 BP1-BP2 deletion (n = 170) and duplication (n = 243) carriers and matched noncarriers (n = 2350). Regional intra-deviation scores, i.e., the standardized difference between an individual's regional difference and global difference, were used to test for regional differences that diverge from the global difference. Results: For the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, posterior cingulate, and temporal pole differed less and regions in the prefrontal and superior temporal cortex differed more than the global difference in cortical surface area. For the 15q11.2 BP1-BP2 deletion carriers, cortical thickness in regions in the medial visual cortex, auditory cortex, and temporal pole differed less and the prefrontal and somatosensory cortex differed more than the global difference in cortical thickness. Conclusions: We find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants. The results provide new insight into brain profiling of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants, with the potential to increase understanding of the mechanisms involved in altered neurodevelopment.


Original languageEnglish
Pages (from-to)147-160
Number of pages14
JournalBiological psychiatry
Issue number2
Publication statusPublished - 15 Jan 2024

External IDs

PubMed 37661008
ORCID /0000-0003-2132-4445/work/150328114


Sustainable Development Goals

ASJC Scopus subject areas


  • 15q11.2 BP1-BP2, 1q21.1 distal, Brain structure, Copy number variants, Intraindividual variability, Magnetic resonance imaging, Chromosome Deletion, Humans, Abnormalities, Multiple, DNA Copy Number Variations, Brain/diagnostic imaging, Magnetic Resonance Imaging, Chromosomes, Human, Pair 15

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