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dc.contributor.authorFontalba, Ana-
dc.contributor.authorFernández-Luna, Jose L.-
dc.contributor.authorZarrabeitia, Roberto-
dc.contributor.authorRecio-Poveda, Lucía-
dc.contributor.authorAlbiñana, Virginia-
dc.contributor.authorOjeda-Fernández, María Luisa-
dc.contributor.authorBernabéu, Carmelo-
dc.contributor.authorAlcaraz, Luis A.-
dc.contributor.authorBotella, Luisa María-
dc.identifier.citationBMC Medical Genetics 14(1) : 121- (2013)-
dc.description.abstractAbstract Background The hereditary hemorrhagic telangiectasia syndrome (HHT), also known as the Rendu–Osler-Weber syndrome is a multiorganic vascular disorder inherited as an autosomal dominant trait. Diagnostic clinical criteria include: epistaxis, telangiectases in mucocutaneous and gastrointestinal sites, arteriovenous malformations (AVMs) most commonly found in pulmonary, hepatic and cerebral circulations, and familial inheritance. HHT is transmitted in 90% of the cases as an autosomal dominant condition due to mutations in either endoglin (ENG), or activin receptor-like kinase 1 (ACVRL1/ALK1) genes (HHT type 1 and 2, respectively). Methods We have carried out a genetic analysis of four independent Spanish families with HHT clinical criteria, which has permitted the identification of new large deletions in ENG. These mutations were first detected using the MLPA technique and subsequently, the deletion breakpoints were mapped using a customized copy number variation (CNV) microarray. The array was designed to cover the ENG gene and surrounding areas. Results All tested families carried large deletions ranging from 3-kb to 100-kb, involving the ENG gene promoter, several ENG exons, and the two downstream genes FGSH and CDK9. Interestingly, common breakpoints coincident with Alu repetitive sequences were found among these families. Conclusions The systematic hybridization of DNA from HHT families, with deletions or duplications, to custom designed microarrays, could allow the mapping of breakpoints, coincident with repetitive Alu sequences that might act as “hot spots” in the development of chromosomal anomalies.-
dc.description.sponsorshipThis work was supported by grants from Ministerio de Economia y Competitividad (SAF2008-01218 and SAF2011-23475 to LMB; and SAF2010-19222 to CB), CIBERER (Intramural 11-707/112.02) and Fundación Ramón Areces (FRA; Rare and Emergent Diseases to LMB) of Spain. Virginia Albiñana was supported by FRA. Maria L. Ojeda-Fernandez is recipient of a CIBERER contract. CIBERER is an initiative of the Instituto de Salud Carlos III (ISCIII), Spain.-
dc.subjectHereditary hemorrhagic telangiectasia (HHT)-
dc.subjectEndoglin deletions-
dc.subjectMultiplex ligation PCR assisted assay (MLPA)-
dc.subjectCopy number variation (CNV) arrays-
dc.subjectAlu repetitive sequences-
dc.titleCopy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1-
dc.description.versionPeer Reviewed-
dc.rights.holderAna Fontalba et al.; licensee BioMed Central Ltd.-
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