The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.

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Serval ID
serval:BIB_9660DE6D30D1
Type
Article: article from journal or magazin.
Collection
Publications
Title
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
Journal
Biological psychiatry
Author(s)
Hippolyte L., Maillard A.M., Rodriguez-Herreros B., Pain A., Martin-Brevet S., Ferrari C., Conus P., Macé A., Hadjikhani N., Metspalu A., Reigo A., Kolk A., Männik K., Barker M., Isidor B., Le Caignec C., Mignot C., Schneider L., Mottron L., Keren B., David A., Doco-Fenzy M., Gérard M., Bernier R., Goin-Kochel R.P., Hanson E., Green Snyder L., Ramus F., Beckmann J.S., Draganski B., Reymond A., Jacquemont S.
Working group(s)
16p11.2 European Consortium, Simons Variation in Individuals Project Consortium
ISSN
1873-2402 (Electronic)
ISSN-L
0006-3223
Publication state
Published
Issued date
15/07/2016
Peer-reviewed
Oui
Volume
80
Number
2
Pages
129-139
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder and schizophrenia. Beyond language and global cognition, neuropsychological assessments of these two CNVs have not yet been reported.
This study investigates the relationship between the number of genomic copies at the 16p11.2 locus and cognitive domains assessed in 62 deletion carriers, 44 duplication carriers, and 71 intrafamilial control subjects.
IQ is decreased in deletion and duplication carriers, but we demonstrate contrasting cognitive profiles in these reciprocal CNVs. Deletion carriers present with severe impairments of phonology and of inhibition skills beyond what is expected for their IQ level. In contrast, for verbal memory and phonology, the data may suggest that duplication carriers outperform intrafamilial control subjects with the same IQ level. This finding is reminiscent of special isolated skills as well as contrasting language performance observed in autism spectrum disorder. Some domains, such as visuospatial and working memory, are unaffected by the 16p11.2 locus beyond the effect of decreased IQ. Neuroimaging analyses reveal that measures of inhibition covary with neuroanatomic structures previously identified as sensitive to 16p11.2 CNVs.
The simultaneous study of reciprocal CNVs suggests that the 16p11.2 genomic locus modulates specific cognitive skills according to the number of genomic copies. Further research is warranted to replicate these findings and elucidate the molecular mechanisms modulating these cognitive performances.

Keywords
Adolescent, Adult, Autistic Disorder/diagnostic imaging, Autistic Disorder/genetics, Autistic Disorder/physiopathology, Child, Child, Preschool, Chromosome Deletion, Chromosome Disorders/diagnostic imaging, Chromosome Disorders/genetics, Chromosome Disorders/physiopathology, Chromosome Duplication/genetics, Chromosomes, Human, Pair 16/genetics, Cognitive Dysfunction/diagnostic imaging, Cognitive Dysfunction/genetics, Cognitive Dysfunction/physiopathology, DNA Copy Number Variations/genetics, Executive Function/physiology, Female, Heterozygote, Humans, Intellectual Disability/diagnostic imaging, Intellectual Disability/genetics, Intellectual Disability/physiopathology, Intelligence/genetics, Language, Male, Memory/physiology, Middle Aged, Motor Skills/physiology, Pedigree, Young Adult, 16p11.2, ASD, Copy number variation, Inhibition, Memory
Pubmed
Web of science
Open Access
Yes
Create date
27/01/2016 20:51
Last modification date
20/08/2019 15:58
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