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Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on Chromosome 7q11.23
Abstract
Purpose To identify the relationship between specific genes and phenotypic features of Williams syndrome.Methods Subjects were selected based on their deletion status determined by fluorescence in situ hybridization using a panel of 24 BACs and cosmids spanning the region commonly deleted and single gene analysis using Southern blotting. From the cohort of subjects, three had atypical deletions. Physical examinations and cognitive tests were administered to the three subjects and the results were compared to those from a cohort of typical WS subjects.Results The molecular results indicate smaller deletions for each subject. In all three cases, typical Williams facies were absent and visual spatial abilities were above that of full deletion WS subjects, particularly in the qualitative aspects of visual spatial processing.Conclusions Combining the molecular analysis with the cognitive results suggest that the genes GTF2IRD1 and GTF2I contribute to deficits on visual spatial functioning.
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“People with atypical deletions, and varying degrees of craniofacial abnormalities, implicate both proximal and distal ends of the deletion, suggesting that more than one gene is responsible [36-41].”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [39]
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Metadata
- Authors
- Hirota, H., Matsuoka, R., Chen, X.-N., Salandanan, L. S., Lincoln, A., Rose, F. E., Sunahara, M., Osawa, M., Bellugi, U., & Korenberg, J. R.
- Affiliations
- Cedars-Sinai Medical Center (US)
- Tokyo Women's Medical University (JP)
- Alliant University (US)
- Salk Institute for Biological Studies (US)
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2003-07
- Volume
- 5
- Issue
- 4
- Pages
- 311-321
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2110886936
- Cited by
- 123
- References
- 56
- Citations by year
- 2025: 2 · 2024: 3 · 2023: 3 · 2022: 5 · 2021: 3 · 2020: 2 · 2019: 2 · 2018: 4 · 2017: 2 · 2016: 3 · 2015: 2 · 2014: 6 · 2013: 5 · 2012: 10
- FWCI
- 2.12
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01 HD 33113, P01HD033113)
- Topics
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- Williams syndrome, GTF2IRD1, GTF2I, chromosome 7q11.23, microdeletion, atypical deletion, visuospatial processing, cognitive impairment, genotype-phenotype correlation
- MeSH terms
- Adolescent, Adult, Child, Chromosome Mapping, Chromosomes, Human, Pair 7, Cosmids, Female, Humans, Intelligence Tests, Models, Genetic, Muscle Proteins, Nuclear Proteins, Phenotype, Cohort Studies, Trans-Activators, Gene Deletion, In Situ Hybridization, Fluorescence, Gene Dosage, Williams Syndrome, Transcription Factors, TFII, Physical Chromosome Mapping
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