Cited by 345Williams Syndrome ResearchGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

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Osborne, Lucy R., Li, Martin, Pober, Barbara, Chitayat, David, Bodurtha, Joann, Mandel, Ariane, Costa, Teresa, Grebe, Theresa, Cox, Sarah, Tsui, Lap-Chee, Scherer, Stephen W.·2001·Nature Genetics

DOI 10.1038/ng753PMC PMC2889916

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Abstract

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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Self-citation
InvFEST, a database integrating information of polymorphic inversions in the human genome
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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: Osborne, Lucy R.
Li, Martin
Pober, Barbara
Chitayat, David
Bodurtha, Joann
Costa, Teresa
Scherer, Stephen W.
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2001-10-29
Volume: 29
Issue: 3
Pages: 321-325
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng753
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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A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

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