ArticleProceedings of the National Academy of Sciences of the United States of America2012
The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis.Journal of autism and developmental disorders · 2017Pooled it
- Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.World journal of pediatrics : WJP · 2026Review
- Anxiety in Young Children with Williams Syndrome: A Longitudinal Study.Children (Basel, Switzerland) · 2025Article
- Article
- Transcription Factor Motifs Associated with Anterior Insula Gene Expression Underlying Mood Disorder Phenotypes.Molecular neurobiology · 2021Article
- From Hyposociability to Hypersociability-The Effects of PSD-95 Deficiency on the Dysfunctional Development of Social Behavior.Frontiers in behavioral neuroscience · 2021Article
- The Salience Network: A Neural System for Perceiving and Responding to Homeostatic Demands.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.Journal of genetics · 2019Article
- Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug.Nature neuroscience · 2019Article
- BDNF ValNeuroImage · 2017Article
- Facial emotion processing in patients with social anxiety disorder and Williams-Beuren syndrome: an fMRI study.Journal of psychiatry & neuroscience : JPN · 2016Article
- Lateral preference in Williams-Beuren syndrome is associated with cognition and language.European child & adolescent psychiatry · 2015Article
- Variation in the Williams syndrome GTF2I gene and anxiety proneness interactively affect prefrontal cortical response to aversive stimuli.Translational psychiatry · 2015Article
- Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population.BMC neuroscience · 2014Article
- Characterizing associations and dissociations between anxiety, social, and cognitive phenotypes of Williams syndrome.Research in developmental disabilities · 2014Article
- Altered microstructure within social-cognitive brain networks during childhood in Williams syndrome.Cerebral cortex (New York, N.Y. : 1991) · 2014Article
- Toward a deeper characterization of the social phenotype of Williams syndrome: The association between personality and social drive.Research in developmental disabilities · 2014Article
- Major depressive disorder is associated with abnormal interoceptive activity and functional connectivity in the insula.Biological psychiatry · 2014Article
- Regionally specific increased volume of the amygdala in Williams syndrome: evidence from surface-based modeling.Human brain mapping · 2014Article
- Reprint of: Mapping connectivity in the developing brain.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2014Article
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Authors and funding
8 authors at 4 institutions in 1 country.
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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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