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https://hdl.handle.net/10316/109846
Título: | High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort | Autor: | Santos, Susana Marques, Vanda Pires, Marina Joana Dias Silveira, Leonor Oliveira, Helena Lança, Vasco Brito, Dulce Madeira, Hugo Esteves, J Fonseca Freitas, António Carreira, Isabel M. Gaspar, Isabel M. Monteiro, Carolino Fernandes, Alexandra R. |
Palavras-chave: | Hypertrophic cardiomyopathy; Gene-based diagnosis; High Resolution Melting; Sarcomere proteins; CSRP3 gene | Data: | 19-Mar-2012 | Editora: | Springer Nature | Título da revista, periódico, livro ou evento: | BMC Medical Genetics | Volume: | 13 | Número: | 1 | Resumo: | 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. | URI: | http://hdl.handle.net/10316/109846 | ISSN: | 1471-2350 | DOI: | 10.1186/1471-2350-13-17 | Direitos: | openAccess |
Aparece nas coleções: | 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 | Ver/Abrir |
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