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Article: A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
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TitleA 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
 
AuthorsOsborne, LR6 3
Li, M7
Pober, B2
Chitayat, D3 7
Bodurtha, J4
Mandel, A6
Costa, T1
Grebe, T5
Cox, S5
Tsui, LC6 7
Scherer, SW6 7
 
Issue Date2001
 
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
 
CitationNature Genetics, 2001, v. 29 n. 3, p. 321-325 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ng753
 
AbstractWilliams-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.
 
ISSN1061-4036
2013 Impact Factor: 29.648
2013 SCImago Journal Rankings: 24.052
 
DOIhttp://dx.doi.org/10.1038/ng753
 
PubMed Central IDPMC2889916
 
ISI Accession Number IDWOS:000171911000020
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorOsborne, LR
 
dc.contributor.authorLi, M
 
dc.contributor.authorPober, B
 
dc.contributor.authorChitayat, D
 
dc.contributor.authorBodurtha, J
 
dc.contributor.authorMandel, A
 
dc.contributor.authorCosta, T
 
dc.contributor.authorGrebe, T
 
dc.contributor.authorCox, S
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorScherer, SW
 
dc.date.accessioned2007-09-12T03:52:12Z
 
dc.date.available2007-09-12T03:52:12Z
 
dc.date.issued2001
 
dc.description.abstractWilliams-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.
 
dc.description.naturelink_to_OA_fulltext
 
dc.identifier.citationNature Genetics, 2001, v. 29 n. 3, p. 321-325 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ng753
 
dc.identifier.citeulike2289193
 
dc.identifier.doihttp://dx.doi.org/10.1038/ng753
 
dc.identifier.epage325
 
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2013 Impact Factor: 29.648
2013 SCImago Journal Rankings: 24.052
 
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dc.identifier.pmcidPMC2889916
 
dc.identifier.pmid11685205
 
dc.identifier.scopuseid_2-s2.0-0035179436
 
dc.identifier.spage321
 
dc.identifier.urihttp://hdl.handle.net/10722/44367
 
dc.identifier.volume29
 
dc.languageeng
 
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
 
dc.publisher.placeUnited States
 
dc.relation.ispartofNature Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshInversion, chromosome
 
dc.subject.meshPolymorphism, genetic - genetics
 
dc.subject.meshWilliams syndrome - genetics
 
dc.subject.meshChromosomes, human, pair 7 - genetics
 
dc.subject.meshElectrophoresis, gel, pulsed-field
 
dc.titleA 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
 
dc.typeArticle
 
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Author Affiliations
  1. Atlantic Research Centre
  2. Yale University
  3. University Health Network University of Toronto
  4. Virginia Commonwealth University
  5. University of Arizona
  6. University of Toronto
  7. Hospital for Sick Children University of Toronto