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

Fumiko Hoeft, Li Dai, Brian W. Haas, Kristen Sheau, Masaru Mimura, Debra Mills, Albert Galaburda, Ursula Bellugi, Julie R. Korenberg, Allan L. Reiss

Research output: Contribution to journalArticle

12 Citations (Scopus)

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.

Original languageEnglish
Article numbere104088
JournalPLoS One
Volume9
Issue number8
DOIs
Publication statusPublished - 2014 Aug 8

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Williams Syndrome
Social Behavior
social behavior
cognition
Cognition
Brain
brain
Networks (circuits)
Genes
amygdala
gene interaction
Medical Genetics
pathophysiology
Amygdala
Gene expression
Pattern recognition
Anatomy
genes
taxonomy
Gene Expression

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with williams syndrome. / Hoeft, Fumiko; Dai, Li; Haas, Brian W.; Sheau, Kristen; Mimura, Masaru; Mills, Debra; Galaburda, Albert; Bellugi, Ursula; Korenberg, Julie R.; Reiss, Allan L.

In: PLoS One, Vol. 9, No. 8, e104088, 08.08.2014.

Research output: Contribution to journalArticle

Hoeft, Fumiko ; Dai, Li ; Haas, Brian W. ; Sheau, Kristen ; Mimura, Masaru ; Mills, Debra ; Galaburda, Albert ; Bellugi, Ursula ; Korenberg, Julie R. ; Reiss, Allan L. / Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with williams syndrome. In: PLoS One. 2014 ; Vol. 9, No. 8.
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