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High resolution melting : improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

2012Journal article Open access
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dc.contributor.authorSantos, Susana
dc.contributor.authorMarques, Vanda
dc.contributor.authorPires, Marina
dc.contributor.authorSilveira, Leonor
dc.contributor.authorOliveira, Helena
dc.contributor.authorLança, Vasco
dc.contributor.authorBrito, Dulce
dc.contributor.authorMadeira, Hugo
dc.contributor.authorEsteves, J. Fonseca
dc.contributor.authorFreitas, António
dc.contributor.authorCarreira, Isabel M.
dc.contributor.authorGaspar, Isabel M.
dc.contributor.authorMonteiro, Carolino
dc.contributor.authorFernandes, Alexandra R.
dc.date.accessioned2018-09-06T15:08:47Z
dc.date.available2018-09-06T15:08:47Z
dc.date.issued2012
dc.description© 2012 Susana et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.pt_PT
dc.description.abstractBackground: Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine. Methodology: In this report, we evaluated High Resolution Melting (HRM) robustness, regarding HCM genetic testing, by means of analyzing 28 HCM-associated genes, including the most frequent 4 HCM-associated sarcomere genes, as well as 24 genes with lower reported HCM-phenotype association. We analyzed 80 Portuguese individuals with clinical phenotype of HCM allowing simultaneously a better characterization of this disease in the Portuguese population. Results: HRM technology allowed us to identify 60 mutated alleles in 72 HCM patients: 49 missense mutations, 3 nonsense mutations, one 1-bp deletion, one 5-bp deletion, one in frame 3-bp deletion, one insertion/deletion, 3 splice mutations, one 5’UTR mutation in MYH7, MYBPC3, TNNT2, TNNI3, CSRP3, MYH6 and MYL2 genes. Significantly 22 are novel gene mutations. Conclusions: HRM was proven to be a technique with high sensitivity and a low false positive ratio allowing a rapid, innovative and low cost genotyping of HCM. In a short return, HRM as a gene scanning technique could be a cost-effective gene-based diagnosis for an accurate HCM genetic diagnosis and hopefully providing new insights into genotype/phenotype correlations.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBMC Medical Genetics 2012 13:17pt_PT
dc.identifier.doi10.1186/1471-2350-13-17pt_PT
dc.identifier.issn1471-2350
dc.identifier.urihttp://hdl.handle.net/10451/34772
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBMCpt_PT
dc.relation.publisherversionhttps://bmcmedgenet.biomedcentral.com/pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectHypertrophic cardiomyopathypt_PT
dc.subjectGene-based diagnosispt_PT
dc.subjectHigh Resolution Meltingpt_PT
dc.subjectSarcomere proteinspt_PT
dc.subjectCSRP3 genept_PT
dc.titleHigh resolution melting : improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohortpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue1pt_PT
oaire.citation.startPage17pt_PT
oaire.citation.titleBMC Medical Geneticspt_PT
oaire.citation.volume13pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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