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Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.

Hoeft F, Dai L, Haas BW, Sheau K, Mimura M, Mills D, Galaburda A, Bellugi U, Korenberg JR, Reiss AL - PLoS ONE (2014)

Bottom Line: Univariate and multivariate pattern classification results of morphometric brain patterns complemented by behavior implicate a possible role for the chromosomal region that includes: 1) GTF2I/GTF2IRD1 in visuo-spatial/motor integration, intraparietal as well as overall gray matter structures, 2) the region spanning ABHD11 through RFC2 including LIMK1, in social cognition, in particular approachability, as well as orbitofrontal, amygdala and fusiform anatomy, and 3) the regions including STX1A, and/or CYLN2 in overall white matter structure.This knowledge contributes to our understanding of the role of genetics on human brain structure, cognition and pathophysiology of altered cognition in WS.The current study builds on ongoing research designed to characterize the impact of multiple genes, gene-gene interactions and changes in gene expression on the human brain.

View Article: PubMed Central - PubMed

Affiliation: Center for Interdisciplinary Brain Sciences Research (CIBSR), Stanford University School of Medicine, Stanford, CA, United States of America; Department of Neuropsychiatry, Keio University, School of Medicine, Tokyo, Japan.

ABSTRACT
In this study of eight rare atypical deletion cases with Williams-Beuren syndrome (WS; also known as 7q11.23 deletion syndrome) consisting of three different patterns of deletions, compared to typical WS and typically developing (TD) individuals, we show preliminary evidence of dissociable genetic contributions to brain structure and human cognition. Univariate and multivariate pattern classification results of morphometric brain patterns complemented by behavior implicate a possible role for the chromosomal region that includes: 1) GTF2I/GTF2IRD1 in visuo-spatial/motor integration, intraparietal as well as overall gray matter structures, 2) the region spanning ABHD11 through RFC2 including LIMK1, in social cognition, in particular approachability, as well as orbitofrontal, amygdala and fusiform anatomy, and 3) the regions including STX1A, and/or CYLN2 in overall white matter structure. This knowledge contributes to our understanding of the role of genetics on human brain structure, cognition and pathophysiology of altered cognition in WS. The current study builds on ongoing research designed to characterize the impact of multiple genes, gene-gene interactions and changes in gene expression on the human brain.

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Schematic table (A) and diagram (B) that represent summary of findings.
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pone-0104088-g003: Schematic table (A) and diagram (B) that represent summary of findings.

Mentions: Behavioral performance on visuo-spatial functions (Beery Visuo-Motor Integration, Benton Judgment of Line Orientation and Wechsler Block Design tasks) for each AWSdel case compared to that of WS and TD individuals generally paralleled the neuroanatomical results (Table 1, 2, Figure 2B). The results of this analysis showed that AWSdel-01 was within or closer to (for visuo-motor integration and block design) the range of TD, AWSdel-02 was within the range of WS (clearly for visuo-motor integration and judgment of line orientation, though not for block design), and AWSdel-03 was within the range of TD (though in this case only for visuo-motor integration and not for judgment of line orientation or block design). Overall, these results implicate GTF2I and/or GTF2IRD1 as candidate genes contributing to altered IPS volumes and visuo-spatial function, in particular visuo-motor integration as consistent with previous animal [37] and human behavioral research [15], [38] (Figure 3).


Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.

Hoeft F, Dai L, Haas BW, Sheau K, Mimura M, Mills D, Galaburda A, Bellugi U, Korenberg JR, Reiss AL - PLoS ONE (2014)

Schematic table (A) and diagram (B) that represent summary of findings.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4126723&req=5

pone-0104088-g003: Schematic table (A) and diagram (B) that represent summary of findings.
Mentions: Behavioral performance on visuo-spatial functions (Beery Visuo-Motor Integration, Benton Judgment of Line Orientation and Wechsler Block Design tasks) for each AWSdel case compared to that of WS and TD individuals generally paralleled the neuroanatomical results (Table 1, 2, Figure 2B). The results of this analysis showed that AWSdel-01 was within or closer to (for visuo-motor integration and block design) the range of TD, AWSdel-02 was within the range of WS (clearly for visuo-motor integration and judgment of line orientation, though not for block design), and AWSdel-03 was within the range of TD (though in this case only for visuo-motor integration and not for judgment of line orientation or block design). Overall, these results implicate GTF2I and/or GTF2IRD1 as candidate genes contributing to altered IPS volumes and visuo-spatial function, in particular visuo-motor integration as consistent with previous animal [37] and human behavioral research [15], [38] (Figure 3).

Bottom Line: Univariate and multivariate pattern classification results of morphometric brain patterns complemented by behavior implicate a possible role for the chromosomal region that includes: 1) GTF2I/GTF2IRD1 in visuo-spatial/motor integration, intraparietal as well as overall gray matter structures, 2) the region spanning ABHD11 through RFC2 including LIMK1, in social cognition, in particular approachability, as well as orbitofrontal, amygdala and fusiform anatomy, and 3) the regions including STX1A, and/or CYLN2 in overall white matter structure.This knowledge contributes to our understanding of the role of genetics on human brain structure, cognition and pathophysiology of altered cognition in WS.The current study builds on ongoing research designed to characterize the impact of multiple genes, gene-gene interactions and changes in gene expression on the human brain.

View Article: PubMed Central - PubMed

Affiliation: Center for Interdisciplinary Brain Sciences Research (CIBSR), Stanford University School of Medicine, Stanford, CA, United States of America; Department of Neuropsychiatry, Keio University, School of Medicine, Tokyo, Japan.

ABSTRACT
In this study of eight rare atypical deletion cases with Williams-Beuren syndrome (WS; also known as 7q11.23 deletion syndrome) consisting of three different patterns of deletions, compared to typical WS and typically developing (TD) individuals, we show preliminary evidence of dissociable genetic contributions to brain structure and human cognition. Univariate and multivariate pattern classification results of morphometric brain patterns complemented by behavior implicate a possible role for the chromosomal region that includes: 1) GTF2I/GTF2IRD1 in visuo-spatial/motor integration, intraparietal as well as overall gray matter structures, 2) the region spanning ABHD11 through RFC2 including LIMK1, in social cognition, in particular approachability, as well as orbitofrontal, amygdala and fusiform anatomy, and 3) the regions including STX1A, and/or CYLN2 in overall white matter structure. This knowledge contributes to our understanding of the role of genetics on human brain structure, cognition and pathophysiology of altered cognition in WS. The current study builds on ongoing research designed to characterize the impact of multiple genes, gene-gene interactions and changes in gene expression on the human brain.

Show MeSH
Related in: MedlinePlus