The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
Open accessAbstract
Williams-Beuren syndrome (WBS) is most often caused by hemizygous deletion of a 1.5-Mb interval encompassing at least 17 genes at 7q11.23 (refs. 1,2). As with many other haploinsufficiency diseases, the mechanism underlying the WBS deletion is thought to be unequal meiotic recombination, probably mediated by the highly homologous DNA that flanks the commonly deleted region. Here, we report the use of interphase fluorescence in situ hybridization (FISH) and pulsed-field gel electrophoresis (PFGE) to identify a genomic polymorphism in families with WBS, consisting of an inversion of the WBS region. We have observed that the inversion is hemizygous in 3 of 11 (27%) atypical affected individuals who show a subset of the WBS phenotypic spectrum but do not carry the typical WBS microdeletion. Two of these individuals also have a parent who carries the inversion. In addition, in 4 of 12 (33%) families with a proband carrying the WBS deletion, we observed the inversion exclusively in the parent transmitting the disease-related chromosome. These results suggest the presence of a newly identified genomic variant within the population that may be associated with the disease. It may result in predisposition to primarily WBS-causing microdeletions, but may also cause translocations and inversions.
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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 [41]
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Self-citationAdditional file 3 of Inversion polymorphism in a complete human genome assembly
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Additional file 7 of InvertypeR: Bayesian inversion genotyping with Strand-seq data
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Additional file 6 of InvertypeR: Bayesian inversion genotyping with Strand-seq data
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Additional file 8 of InvertypeR: Bayesian inversion genotyping with Strand-seq data
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Additional file 10 of InvertypeR: Bayesian inversion genotyping with Strand-seq data
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Additional file 9 of InvertypeR: Bayesian inversion genotyping with Strand-seq data
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Additional file 4 of InvertypeR: Bayesian inversion genotyping with Strand-seq data
Hanlon, V. C. T., Mattsson, C.-A., Spierings, D. C. J., Guryev, V., & Lansdorp, P. M. (2021) · Figshare · doi:10.6084/m9.figshare.15087443
Additional file 1 of Inversion polymorphism in a complete human genome assembly
Porubskỳ, D., Harvey, W. T., Rozanski, A. N., Ebler, J., Höps, W., Ashraf, H., Hasenfeld, P., Paten, B., Sanders, A. D., Marschall, T., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22724234
Additional file 1 of InvertypeR: Bayesian inversion genotyping with Strand-seq data
Hanlon, V. C. T., Mattsson, C.-A., Spierings, D. C. J., Guryev, V., & Lansdorp, P. M. (2021) · Figshare · doi:10.6084/m9.figshare.15087434
Additional file 2 of InvertypeR: Bayesian inversion genotyping with Strand-seq data
Hanlon, V. C. T., Mattsson, C.-A., Spierings, D. C. J., Guryev, V., & Lansdorp, P. M. (2021) · Figshare · doi:10.6084/m9.figshare.15087437
Additional file 3 of InvertypeR: Bayesian inversion genotyping with Strand-seq data
Hanlon, V. C. T., Mattsson, C.-A., Spierings, D. C. J., Guryev, V., & Lansdorp, P. M. (2021) · Figshare · doi:10.6084/m9.figshare.15087440
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FAIRsharing record for: The Chromosome 7 Annotation Project
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A síndrome de Williams-Beuren: contribuições à avaliação clínica e genômica
de Souza, D. H. (2013) · Aleph UCLA Undergraduate Research Journal for the Humanities and Social Sciences
Metadata
- Authors
- Osborne, L. R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.-C., & Scherer, S. W.
- Affiliations
- University of Toronto (CA)
- Hospital for Sick Children (CA)
- Yale University (US)
- University Health Network (CA)
- Virginia Commonwealth University (US)
- University of Arizona (US)
- Corresponding author
- Scherer, Stephen W.
- ORCID
- Venue
- Nature Genetics
- Published
- 2001-10-29
- Volume
- 29
- Issue
- 3
- Pages
- 321-325
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC2889916
- OpenAlex
- W1686085663
- Cited by
- 344
- References
- 31
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 7 · 2023: 11 · 2022: 5 · 2021: 22 · 2020: 6 · 2019: 4 · 2018: 5 · 2017: 9 · 2016: 5 · 2015: 7 · 2014: 9 · 2013: 8 · 2012: 18
- FWCI
- 5.44
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Funders
- Yale University
- University of Arizona
- Canadian Institutes of Health Research (38103)
- Topics
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Williams syndrome, chromosomal inversions, hemizygous deletion, haploinsufficiency, genetic polymorphism, atypical phenotype, translocation, genetic susceptibility, chromosome 7
- MeSH terms
- Adolescent, Chromosomes, Human, Pair 7, Female, Genetic Markers, Genotype, Humans, Infant, Chromosome Inversion, Male, Molecular Sequence Data, Mutation, Phenotype, Polymorphism, Genetic, Electrophoresis, Gel, Pulsed-Field, In Situ Hybridization, Fluorescence, Williams Syndrome, Genetic Predisposition to Disease, Physical Chromosome Mapping
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