Neuroscience 2004 Abstract
| Presentation Number: | 666.5 |
|---|---|
| Abstract Title: | Williams Syndrome: Evidence from atypical deletion links GTFII-I and GTFII-IRD1, with posterior cortical structure and neural functions. |
| Authors: |
Korenberg, J. R.*1
; Applebaum, M. I.2
; Bellugi, U.3
; Chen, X. N.1
; Mills, D. L.
; Reiss, A. L.
; Rose, F. E.3
; Salandanan, L. S.1
; Simon, A. F.1
; Sawchenko, P. E.3
; Yao, G. M.1
1Cedars-Sinai Med Ctr, Los Angeles, CA 2CA, 110 George Burns Road, 90048-1869, 3USA, 110 George Burns Road, 90048-1869, |
| Primary Theme and Topics |
Cognition and Behavior - Human Cognition, Behavior, and Anatomy -- Anatomy |
| Session: |
666. Human Anatomy and Genetic Relations Poster |
| Presentation Time: | Tuesday, October 26, 2004 8:00 AM-9:00 AM |
| Location: | San Diego Convention Center - Hall A-H, Board # NN8 |
| Keywords: | GENE EXPRESSION, SPATIAL, SOCIAL, BRAIN |
Williams Syndrome (WS) is a neurodevelopmental disorder caused by a deletion of chromosome 7q11.23. Individuals exhibit striking peaks and valleys in neurocognition that include deficits in visuospatial processing along with relatively preserved language and face processing. These features are associated with distinct variations in neuroanatomy and physiology. In an effort to identify their genetic origins, we have compared 2 atypical cases to WS and to control populations at a highly integrative level, combining studies of molecular structure, volumetric magnetic resonance imaging (MRI), cognition, and event-related potentials (ERPs). We used multicolor FISH with a panel of 45 BACS, PACS and cosmids, PCR of somatic cells hybrids and quantitative Southern blots to identify 80 adults with typical deletions, and 2 adult males with overlapping atypical deletions (one from FKBP6 to CYLN2, and the 2nd from CLDN4 through GTFII-I). Brain structure was determined through MRI studies. Cognition was determined by standard tests and brain electrophysiology by ERPs analyses. Such an approach allowed us to compare the data obtained with the two atypical cases to the distribution for normal and WS subjects. We propose that decreased expression of 2 transcriptional regulators, GTFII-IRD1 and GTFII-I, but not of FZD9, is related to a distinct subset of WS features that includes posterior cerebral variation, visuospatial processing, and abnormal neural activity for face processing. The results of this study begin to define pathways linking gene expression with human cognition.
Supported by NICHD-P01 33113 & McDonnell
Sample Citation:
[Authors]. [Abstract Title]. Program No. XXX.XX. 2004 Neuroscience Meeting Planner. San Diego, CA: Society for Neuroscience, 2004. Online.
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