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

TitleA 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
Authors
Issue Date2001
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 2001, v. 29 n. 3, p. 321-325 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/44367
ISSN
2013 Impact Factor: 29.648
2013 SCImago Journal Rankings: 24.052
PubMed Central ID
ISI Accession Number ID
References

 

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
DC FieldValueLanguage
dc.contributor.authorOsborne, LRen_HK
dc.contributor.authorLi, Men_HK
dc.contributor.authorPober, Ben_HK
dc.contributor.authorChitayat, Den_HK
dc.contributor.authorBodurtha, Jen_HK
dc.contributor.authorMandel, Aen_HK
dc.contributor.authorCosta, Ten_HK
dc.contributor.authorGrebe, Ten_HK
dc.contributor.authorCox, Sen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorScherer, SWen_HK
dc.date.accessioned2007-09-12T03:52:12Z-
dc.date.available2007-09-12T03:52:12Z-
dc.date.issued2001en_HK
dc.identifier.citationNature Genetics, 2001, v. 29 n. 3, p. 321-325en_HK
dc.identifier.issn1061-4036en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44367-
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.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.comen_HK
dc.relation.ispartofNature Geneticsen_HK
dc.subject.meshInversion, chromosomeen_HK
dc.subject.meshPolymorphism, genetic - geneticsen_HK
dc.subject.meshWilliams syndrome - geneticsen_HK
dc.subject.meshChromosomes, human, pair 7 - geneticsen_HK
dc.subject.meshElectrophoresis, gel, pulsed-fielden_HK
dc.titleA 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndromeen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1061-4036&volume=29&issue=3&spage=321&epage=325&date=2001&atitle=A+1.5+million-base+pair+inversion+polymorphism+in+families+with+Williams-Beuren+syndromeen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1038/ng753en_HK
dc.identifier.pmid11685205en_HK
dc.identifier.pmcidPMC2889916-
dc.identifier.scopuseid_2-s2.0-0035179436en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0035179436&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume29en_HK
dc.identifier.issue3en_HK
dc.identifier.spage321en_HK
dc.identifier.epage325en_HK
dc.identifier.isiWOS:000171911000020-
dc.publisher.placeUnited Statesen_HK
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dc.identifier.scopusauthoridOsborne, LR=35369973100en_HK
dc.identifier.scopusauthoridLi, M=7405264026en_HK
dc.identifier.scopusauthoridPober, B=7003518920en_HK
dc.identifier.scopusauthoridChitayat, D=7005750871en_HK
dc.identifier.scopusauthoridBodurtha, J=7007016114en_HK
dc.identifier.scopusauthoridMandel, A=7005727678en_HK
dc.identifier.scopusauthoridCosta, T=7103357519en_HK
dc.identifier.scopusauthoridGrebe, T=7004670178en_HK
dc.identifier.scopusauthoridCox, S=7401455988en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.citeulike2289193-

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