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A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
dc.contributor.author | Torrado, Mario | |
dc.contributor.author | Maneiro, Emilia | |
dc.contributor.author | Trujillo-Quintero, Juan Pablo | |
dc.contributor.author | Evangelista, Arturo | |
dc.contributor.author | Mikhailov, Alexander T. | |
dc.contributor.author | Monserrat, Lorenzo | |
dc.date.accessioned | 2018-06-26T09:52:20Z | |
dc.date.available | 2018-06-26T09:52:20Z | |
dc.date.issued | 2018 | |
dc.identifier.citation | Torrado M, Maneiro E, Trujillo-Quintero JO, Evangelista A, Mikhailov AT, Monserrat L. A novel heterozygous intronic mutation in the FBN1 gene contributes to FBN1 RNA missplicing events in the Marfan syndrome. BioMed Res Int. 2018;2018:3536495 | es_ES |
dc.identifier.issn | 2314-6141 | |
dc.identifier.issn | 2314-6133 | |
dc.identifier.uri | http://hdl.handle.net/2183/20817 | |
dc.description.abstract | [Abstract] Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, by using targeted next-generation sequence analysis, identified a novel intronic FBN1 mutation (the c.2678-15C>A variant) in a MFS patient with aortic dilatation. The computational predictions showed that the heterozygous c.2678-15C>A intronic variant might influence the splicing process by differentially affecting canonical versus cryptic splice site utilization within intron 22 of the FBN1 gene. RT-PCR and Western blot analyses, using FBN1 minigenes transfected into HeLa and COS-7 cells, revealed that the c.2678-15C>A variant disrupts normal splicing of intron 22 leading to aberrant 13-nt intron 22 inclusion, frameshift, and premature termination codon. Collectively, the results strongly suggest that the c.2678-15C>A variant could lead to haploinsufficiency of the FBN1 functional protein and structural connective tissue fragility in MFS complicated by aorta dilation, a finding that further expands on the genetic basis of aortic pathology. | es_ES |
dc.description.sponsorship | Xunta de Galicia; 2013/061 | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Hindawi | es_ES |
dc.relation.uri | https://doi.org/10.1155/2018/3536495 | es_ES |
dc.rights | Atribución 4.0 Internacional (CC BY 4.0) | es_ES |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | * |
dc.subject | Aorta surgery | es_ES |
dc.subject | Marfan syndrome | es_ES |
dc.subject | Gene expression | es_ES |
dc.subject | Mutation (Biology) | es_ES |
dc.subject | Polymerase chain reaction | es_ES |
dc.subject | RNA | es_ES |
dc.subject | Western immunoblotting | es_ES |
dc.subject | Fibrillin | es_ES |
dc.subject | Dilatation & curettage | es_ES |
dc.subject | Sequence analysis | es_ES |
dc.title | A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.access | info:eu-repo/semantics/openAccess | es_ES |
UDC.journalTitle | BioMed Research International | es_ES |
UDC.volume | 2018 | es_ES |
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