Journal article

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Debra D'Angelo, Sebastien Lebon, Qixuan Chen, Sandra Martin-Brevet, LeeAnne Green Snyder, Loyse Hippolyte, Ellen Hanson, Anne M Maillard, W Andrew Faucett, Aurelien Mace, Aurelie Pain, Raphael Bernier, Samuel JRA Chawner, Albert David, Joris Andrieux, Elizabeth Aylward, Genevieve Baujat, Ines Caldeira, Philippe Conus, Carrina Ferrari Show all

JAMA PSYCHIATRY | AMER MEDICAL ASSOC | Published : 2016

Abstract

IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). OBJECTIVES: To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. DESIGN, SETTING, AND PARTICIPANTS: This international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 recipr..

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Grants

Awarded by Estonian Research Council


Awarded by Simons Foundation


Awarded by SNSF


Awarded by Swiss National Science Foundation (NCCR Synapsy)


Awarded by European Union Seventh Framework Program (FP7)


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Awarded by Medical Research Council


Funding Acknowledgements

This study was supported by the Center of Excellence in Genomics; by grant SP1GVARENG (University of Tartu); by grant IUT20-60 from the Estonian Research Council; by a fellowship from the Swiss Scientific Exchange NMS Program (Dr Mannik); by a Bursary Professor fellowship of the Swiss National Science Foundation (SNSF) (Dr Jacquemont); by grant SFARI274424 from the Simons Foundation (Dr Reymond); by grant 31003A160203 from the SNSF (Dr Reymond); by Sinergia grant CRSII33-133044 from the SNSF (Dr Reymond); and by a Medical Research Council (MRC) doctoral training grant at the MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University (Mr Chawner). Dr Dragaski is supported by project grants 320030_135679 and SPUM 33CM30_140332/1 from the Swiss National Science Foundation (NCCR Synapsy), Foundation Parkinson Switzerland, Foundation Synapsis and the European Union Seventh Framework Program (FP7/2007-2013) under grant agreement 604102 (Human Brain Projects). LREN receives financial support from the Roger de Spoelberch and Partridge Foundations. The Simons VIP work is supported by the Simons Foundation Autism Research Initiative (SFARI).