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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2001-11

AUTHORS

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

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. More... »

PAGES

321-325

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng753

DOI

http://dx.doi.org/10.1038/ng753

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1031273704

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11685205


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