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

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 c...

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Main Authors: Fumiko Hoeft, Li Dai, Brian W Haas, Kristen Sheau, Masaru Mimura, Debra Mills, Albert Galaburda, Ursula Bellugi, Julie R Korenberg, Allan L Reiss
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4126723?pdf=render
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author Fumiko Hoeft
Li Dai
Brian W Haas
Kristen Sheau
Masaru Mimura
Debra Mills
Albert Galaburda
Ursula Bellugi
Julie R Korenberg
Allan L Reiss
author_facet Fumiko Hoeft
Li Dai
Brian W Haas
Kristen Sheau
Masaru Mimura
Debra Mills
Albert Galaburda
Ursula Bellugi
Julie R Korenberg
Allan L Reiss
author_sort Fumiko Hoeft
collection DOAJ
description 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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spelling doaj.art-f67f43341046480a807d0360caf59faf2022-12-22T01:22:26ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0198e10408810.1371/journal.pone.0104088Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.Fumiko HoeftLi DaiBrian W HaasKristen SheauMasaru MimuraDebra MillsAlbert GalaburdaUrsula BellugiJulie R KorenbergAllan L ReissIn 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.http://europepmc.org/articles/PMC4126723?pdf=render
spellingShingle Fumiko Hoeft
Li Dai
Brian W Haas
Kristen Sheau
Masaru Mimura
Debra Mills
Albert Galaburda
Ursula Bellugi
Julie R Korenberg
Allan L Reiss
Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.
PLoS ONE
title Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.
title_full Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.
title_fullStr Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.
title_full_unstemmed Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.
title_short Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.
title_sort mapping genetically controlled neural circuits of social behavior and visuo motor integration by a preliminary examination of atypical deletions with williams syndrome
url http://europepmc.org/articles/PMC4126723?pdf=render
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