Open Access
Proceedings of the National Academy of Sciences of the United States of America, volume 109, issue 14, pages E860-E866
The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function
Jabbi Mbemba
1, 2
,
Kippenhan J.Shane
1, 2
,
Kohn Philip
1, 2
,
Marenco Stefano
2
,
Mervis Carolyn B.
3
,
Morris Colleen A.
4
,
Meyer-Lindenberg Andreas
1, 2
,
Berman Karen Faith
1, 2
1
Section on Integrative Neuroimaging, National Institute of Mental Health, Intramural Research Program, National Institutes of Health, Bethesda, MD 20892;
|
2
Clinical Brain Disorders Branch, Genes, Cognition and Psychosis Program, National Institute of Mental Health, Intramural Research Program, National Institutes of Health, Bethesda, MD 20892;
|
3
Neurodevelopmental Sciences Laboratory, Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY 40208; and
|
4
Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, NV 89128
|
Publication type: Journal Article
Publication date: 2012-03-12
Quartile SCImago
Q1
Quartile WOS
Q1
Impact factor: 11.1
ISSN: 00278424, 10916490
PubMed ID:
22411788
Multidisciplinary
Abstract
Although it is widely accepted that genes can influence complex behavioral traits such as human temperament, the underlying neurogenetic mechanisms remain unclear. Williams syndrome (WS), a rare disorder caused by a hemizygous deletion on chromosome 7q11.23, including genes important for neuronal migration and maturation (LIMK1 and CLIP2), is typified by a remarkable hypersocial but anxious personality and offers a unique opportunity to investigate this open issue. Based on the documented role of the insula in mediating emotional response tendencies and personality, we used multimodal imaging to characterize this region in WS and found convergent anomalies: an overall decrease in dorsal anterior insula (AI) gray-matter volume along with locally increased volume in the right ventral AI; compromised white-matter integrity of the uncinate fasciculus connecting the insula with the amygdala and orbitofrontal cortex; altered regional cerebral blood flow in a pattern reminiscent of the observed gray-matter alterations (i.e., widespread reductions in dorsal AI accompanied by locally increased regional cerebral blood flow in the right ventral AI); and disturbed neurofunctional interactions between the AI and limbic regions. Moreover, these genetically determined alterations of AI structure and function predicted the degree to which the atypical WS personality profile was expressed in participants with the syndrome. The AI's rich anatomical connectivity, its transmodal properties, and its involvement in the behaviors affected in WS make the observed genetically determined insular circuitry perturbations and their association with WS personality a striking demonstration of the means by which neural systems can serve as the interface between genetic variability and alterations in complex behavioral traits.
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Jabbi M. et al. The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function // Proceedings of the National Academy of Sciences of the United States of America. 2012. Vol. 109. No. 14. p. E860-E866.
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Jabbi M., Kippenhan J., Kohn P., Marenco S., Mervis C. B., Morris C. A., Meyer-Lindenberg A., Berman K. F. The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function // Proceedings of the National Academy of Sciences of the United States of America. 2012. Vol. 109. No. 14. p. E860-E866.
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RIS
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TY - JOUR
DO - 10.1073/pnas.1114774109
UR - https://doi.org/10.1073%2Fpnas.1114774109
TI - The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function
T2 - Proceedings of the National Academy of Sciences of the United States of America
AU - Jabbi, Mbemba
AU - Kippenhan, J.Shane
AU - Kohn, Philip
AU - Marenco, Stefano
AU - Mervis, Carolyn B.
AU - Morris, Colleen A.
AU - Meyer-Lindenberg, Andreas
AU - Berman, Karen Faith
PY - 2012
DA - 2012/03/12 00:00:00
PB - Proceedings of the National Academy of Sciences (PNAS)
SP - E860-E866
IS - 14
VL - 109
PMID - 22411788
SN - 0027-8424
SN - 1091-6490
ER -
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@article{2012_Jabbi,
author = {Mbemba Jabbi and J.Shane Kippenhan and Philip Kohn and Stefano Marenco and Carolyn B. Mervis and Colleen A. Morris and Andreas Meyer-Lindenberg and Karen Faith Berman},
title = {The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function},
journal = {Proceedings of the National Academy of Sciences of the United States of America},
year = {2012},
volume = {109},
publisher = {Proceedings of the National Academy of Sciences (PNAS)},
month = {mar},
url = {https://doi.org/10.1073%2Fpnas.1114774109},
number = {14},
pages = {E860--E866},
doi = {10.1073/pnas.1114774109}
}
Cite this
MLA
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Jabbi, Mbemba, et al. “The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function.” Proceedings of the National Academy of Sciences of the United States of America, vol. 109, no. 14, Mar. 2012, pp. E860-E866. https://doi.org/10.1073%2Fpnas.1114774109.