Publication Type Journal Article
Title High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort
Authors Susana Santos Vanda Marques Marina Pires Leonor Silveira Helena Oliveira Vasco Lanca Dulce Brito Hugo Madeira J. Fonseca Esteves Antonio Freitas Isabel M. Carreira Isabel M. Gaspar Carolino Monteiro A.R. Fernandes
Groups CCC HC
Journal BMC MEDICAL GENETICS
Year 2012
Month March
Volume 13
Number
Pages
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.
DOI http://dx.doi.org/10.1186/1471-2350-13-17
ISBN
Publisher
Book Title
ISSN 1471-2350
EISSN
Conference Name
Bibtex ID ISI:000304418700001
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