Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/109846
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Santos, Susana | - |
dc.contributor.author | Marques, Vanda | - |
dc.contributor.author | Pires, Marina Joana Dias | - |
dc.contributor.author | Silveira, Leonor | - |
dc.contributor.author | Oliveira, Helena | - |
dc.contributor.author | Lança, Vasco | - |
dc.contributor.author | Brito, Dulce | - |
dc.contributor.author | Madeira, Hugo | - |
dc.contributor.author | Esteves, J Fonseca | - |
dc.contributor.author | Freitas, António | - |
dc.contributor.author | Carreira, Isabel M. | - |
dc.contributor.author | Gaspar, Isabel M. | - |
dc.contributor.author | Monteiro, Carolino | - |
dc.contributor.author | Fernandes, Alexandra R. | - |
dc.date.accessioned | 2023-10-31T11:12:46Z | - |
dc.date.available | 2023-10-31T11:12:46Z | - |
dc.date.issued | 2012-03-19 | - |
dc.identifier.issn | 1471-2350 | pt |
dc.identifier.uri | http://hdl.handle.net/10316/109846 | - |
dc.description.abstract | Background: 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 |
dc.language.iso | eng | pt |
dc.publisher | Springer Nature | pt |
dc.rights | openAccess | pt |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | pt |
dc.subject | Hypertrophic cardiomyopathy | pt |
dc.subject | Gene-based diagnosis | pt |
dc.subject | High Resolution Melting | pt |
dc.subject | Sarcomere proteins | pt |
dc.subject | CSRP3 gene | pt |
dc.subject.mesh | Adolescent | pt |
dc.subject.mesh | Adult | pt |
dc.subject.mesh | Aged | pt |
dc.subject.mesh | Aged, 80 and over | pt |
dc.subject.mesh | Biometry | pt |
dc.subject.mesh | Cardiac Myosins | pt |
dc.subject.mesh | Cardiomyopathy, Hypertrophic | pt |
dc.subject.mesh | Carrier Proteins | pt |
dc.subject.mesh | Cohort Studies | pt |
dc.subject.mesh | Computational Biology | pt |
dc.subject.mesh | Exons | pt |
dc.subject.mesh | Female | pt |
dc.subject.mesh | Genetic Variation | pt |
dc.subject.mesh | Genome, Human | pt |
dc.subject.mesh | Humans | pt |
dc.subject.mesh | Male | pt |
dc.subject.mesh | Middle Aged | pt |
dc.subject.mesh | Mutation | pt |
dc.subject.mesh | Myosin Heavy Chains | pt |
dc.subject.mesh | Nucleic Acid Denaturation | pt |
dc.subject.mesh | Polymerase Chain Reaction | pt |
dc.subject.mesh | Portugal | pt |
dc.subject.mesh | Troponin T | pt |
dc.subject.mesh | Young Adult | pt |
dc.title | High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort | pt |
dc.type | article | - |
degois.publication.firstPage | 17 | pt |
degois.publication.issue | 1 | pt |
degois.publication.title | BMC Medical Genetics | pt |
dc.peerreviewed | yes | pt |
dc.identifier.doi | 10.1186/1471-2350-13-17 | pt |
degois.publication.volume | 13 | pt |
dc.date.embargo | 2012-03-19 | * |
uc.date.periodoEmbargo | 0 | pt |
item.grantfulltext | open | - |
item.cerifentitytype | Publications | - |
item.languageiso639-1 | en | - |
item.openairetype | article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | Com Texto completo | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.orcid | 0000-0001-6842-1707 | - |
Appears in Collections: | FMUC Medicina - Artigos em Revistas Internacionais |
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High-resolution-melting-Improvements-in-the-genetic-diagnosis-of-hypertrophic-cardiomyopathy-in-a-Portuguese-cohortBMC-Medical-Genetics.pdf | 1.13 MB | Adobe PDF | View/Open |
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This item is licensed under a Creative Commons License