Reciprocal Copy Number Variations at 22q11.2 Produce Distinct and Convergent Neurobehavioral Impairments Relevant for Schizophrenia and Autism Spectrum Disorder.

Biological Psychiatry
Amy LinCarrie E. Bearden

Abstract

22q11.2 deletions and duplications are copy number variations (CNVs) that predispose to developmental neuropsychiatric disorders. Both CNVs are associated with autism spectrum disorder (ASD), while the deletion confers disproportionate risk for schizophrenia. Neurobehavioral profiles associated with these reciprocal CNVs in conjunction with brain imaging measures have not been reported. We profiled the impact of 22q11.2 CNVs on neurobehavioral measures relevant to ASD and psychosis in 106 22q11.2 deletion carriers, 38 22q11.2 duplication carriers, and 82 demographically matched healthy control subjects. To determine whether brain-behavior relationships were altered in CNV carriers, we further tested for interactions between group and regional brain structure on neurobehavioral domains. Cognitive deficits were observed in both CNV groups, with the lowest IQs in deletion carriers. ASD and dimensionally measured ASD traits were elevated in both CNV groups; however, duplication carriers exhibited increased stereotypies compared to deletion carriers. Moreover, discriminant analysis using ASD subdomains distinguished between CNV cases with 76% accuracy. Both psychotic disorder diagnosis and dimensionally measured positive and negativ...Continue Reading

References

Aug 1, 1994·Acta Psychologica·R Kail, T A Salthouse
Jan 6, 2001·Neuron·C LordD G Amaral
May 3, 2003·The American Journal of Psychiatry·Amy E PinkhamJeffrey Lieberman
Nov 5, 2003·The American Journal of Psychiatry·Tara A NiendamTyrone D Cannon
Oct 7, 2004·Acta Psychologica·Mark M SpanMaurits W van der Molen
Jan 26, 2005·Trends in Cognitive Sciences·Tomás Paus
Jun 7, 2006·Schizophrenia Research·Eva W C ChowAnne S Bassett
Oct 13, 2006·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·David C GlahnMichael A Escamilla
Oct 19, 2006·Journal of Autism and Developmental Disorders·Kristen S L Lam, Michael G Aman
Jan 30, 2007·Neuroreport·Timothy A KellerMarcel Adam Just
Jan 19, 2008·The British Journal of Psychiatry. Supplement·José Manuel Rodríguez-SánchezUNKNOWN PAFIP Group Study
Apr 17, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Zhishuo OuAnkita Patel
Aug 19, 2008·European Journal of Medical Genetics·Christian WentzelAnn-Charlotte Thuresson
Sep 23, 2008·Human Molecular Genetics·Anne S BassettStephen W Scherer
Nov 4, 2008·The British Journal of Psychiatry : the Journal of Mental Science·Vera A MorganAssen Jablensky
Mar 4, 2009·European Journal of Medical Genetics·Marie-France Portnoï
Oct 3, 2009·Journal of the American Academy of Child and Adolescent Psychiatry·Tamar GreenStephan Eliez
Jan 6, 2010·The American Journal of Psychiatry·Abraham ReichenbergTerrie E Moffitt
Jun 1, 2009·Journal of Neurodevelopmental Disorders·Mark Lewis, Soo-Jeong Kim
Aug 13, 2011·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Matthew F Glasser, David C Van Essen
Sep 13, 2011·Human Molecular Genetics·Takeshi HiramotoNoboru Hiroi
Mar 20, 2012·Cell·Dheeraj Malhotra, Jonathan Sebat
Nov 17, 2012·Schizophrenia Research·Jacob A S VorstmanAnne S Bassett
May 31, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Yasuo OuchiTakashi Iwamoto
Sep 3, 2013·Biological Psychiatry·George KirovMichael J Owen
Sep 13, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Karine FénelonJoseph A Gogos
Oct 12, 2013·The British Journal of Psychiatry : the Journal of Mental Science·Maria NiarchouMarianne B M van den Bree
Oct 19, 2013·Nature Reviews. Neuroscience·B J CaseyKerry J Ressler
Nov 13, 2013·Molecular Psychiatry·E ReesM J Owen
Dec 7, 2013·The British Journal of Psychiatry : the Journal of Mental Science·Elliott ReesGeorge Kirov

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Citations

Jun 10, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Allysa WarlingArmin Raznahan
Jan 18, 2021·Current Opinion in Genetics & Development·Jacob Vorstman, Stephen W Scherer
Feb 23, 2021·Human Brain Mapping·Ida E SønderbyUNKNOWN ENIGMA 22q11.2 Deletion Syndrome Working Group
Jun 4, 2021·Current Opinion in Genetics & Development·Michael Mortillo, Jennifer G Mulle
Sep 8, 2021·American Journal of Medical Genetics. Part a·Jente VerbesseltAnn Swillen

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