2007
DOI: 10.1002/humu.20591
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Double complex mutations involvingF8andFUNDC2caused by distinct break-induced replication

Abstract: Genomic rearrangements are a well-recognized cause of genetic disease and can be formed by a variety of mechanisms. We report a complex rearrangement causing severe hemophilia A, identified and further characterized using a range of PCR-based methods, and confirmed using array-comparative genomic hybridization (array-CGH). This rearrangement consists of a 15.5-kb deletion/16-bp insertion located 0.6 kb from a 28.1-kb deletion/263-kb insertion at Xq28 and is one of the most complex rearrangements described at a… Show more

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Cited by 56 publications
(60 citation statements)
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“…In such cases, the DNA repair mechanism is not always a simple event. Several groups recently reported complex rearrangements that at first glance seem to be generated in a mechanistically simple way but after detailed molecular analysis revealed more complex rearrangements potentially due to alternative DNA repair mechanisms (Balciuniene et al 2007;Gotter et al 2007;Potocki et al 2007;Sheen et al 2007) or replication errors ).…”
mentioning
confidence: 99%
“…In such cases, the DNA repair mechanism is not always a simple event. Several groups recently reported complex rearrangements that at first glance seem to be generated in a mechanistically simple way but after detailed molecular analysis revealed more complex rearrangements potentially due to alternative DNA repair mechanisms (Balciuniene et al 2007;Gotter et al 2007;Potocki et al 2007;Sheen et al 2007) or replication errors ).…”
mentioning
confidence: 99%
“…18,19 SRS models have been proposed to explain the origin of complex genomic rearrangements involving deletions seen in a small but significant fraction of cystic fibrosis (Ϸ1.5% of known CFTR gene lesions) and hemophilia A patients. 35,36 For the complex double deletion described in the present study, we suggest a mutational mechanism invoking SRS in trans during DNA replication, which features annealing of single-stranded nascent leadingstrand DNA to lagging strand DNA with minimal homology.…”
Section: Discussionmentioning
confidence: 75%
“…An example of transposition of a large fragment from a distant site into the recombination site was reported in the coagulation factor F8 gene located on chromosome Xq28, and the 263-kb duplicated region was shown to have originated 5.2 Mb apart from the inserted site. 28 These suggest that the insertion of a large genomic fragment into a far distant region can be a cause of disease.…”
Section: Discussionmentioning
confidence: 99%