title: Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.
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.
authors.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.
authors.forename: Fumiko
authors.initials: F
authors.lastname: Hoeft
authors.affiliation: Department of Pediatrics & The Center for Integrated Neuroscience and Human Behavior, The Brain Institute, University of Utah, Salt Lake City, UT, United States of America.
authors.forename: Li
authors.initials: L
authors.lastname: Dai
authors.affiliation: Center for Interdisciplinary Brain Sciences Research (CIBSR), Stanford University School of Medicine, Stanford, CA, United States of America; Department of Psychology, University of Georgia, Athens, GA, United States of America.
authors.forename: Brian W
authors.initials: BW
authors.lastname: Haas
authors.affiliation: Center for Interdisciplinary Brain Sciences Research (CIBSR), Stanford University School of Medicine, Stanford, CA, United States of America.
authors.forename: Kristen
authors.initials: K
authors.lastname: Sheau
authors.affiliation: Department of Neuropsychiatry, Keio University, School of Medicine, Tokyo, Japan.
authors.forename: Masaru
authors.initials: M
authors.lastname: Mimura
authors.affiliation: School of Psychology, Bangor University, Gwynedd, United Kingdom.
authors.forename: Debra
authors.initials: D
authors.lastname: Mills
authors.affiliation: Department of Neurology, Beth Israel-Deaconess Medical Center, Harvard Medical School, Cambridge, MA, United States of America.
authors.forename: Albert
authors.initials: A
authors.lastname: Galaburda
authors.affiliation: Laboratory for Cognitive Neuroscience, Salk Institute for Biological Studies, La Jolla, CA, United States of America.
authors.forename: Ursula
authors.initials: U
authors.lastname: Bellugi
authors.affiliation: Department of Pediatrics & The Center for Integrated Neuroscience and Human Behavior, The Brain Institute, University of Utah, Salt Lake City, UT, United States of America.
authors.forename: Julie R
authors.initials: JR
authors.lastname: Korenberg
authors.affiliation: Center for Interdisciplinary Brain Sciences Research (CIBSR), Stanford University School of Medicine, Stanford, CA, United States of America; Departments of Radiology and Pediatrics, Stanford University School of Medicine, Stanford, CA, United States of America.
authors.forename: Allan L
authors.initials: AL
authors.lastname: Reiss
mesh_terms: D001921:Brain / Q000473:pathology; D022202:Chromosomes, Artificial, Bacterial; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003071:Cognition / Q000502:physiology*; D054893:Cone-Beam Computed Tomography; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009415:Nerve Net / Q000502:physiology*; D009483:Neuropsychological Tests; D011597:Psychomotor Performance / Q000502:physiology*; D017384:Sequence Deletion / Q000235:genetics; D012919:Social Behavior; D018980:Williams Syndrome / Q000235:genetics* / Q000503:physiopathology*
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