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

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 reciprocal deletion carriers, and 244 deletion controls from European and North America

SUBMITTER: D'Angelo D 

PROVIDER: S-EPMC5894477 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature