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| Item Type: | Article |
|---|---|
| Title: | Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice |
| Creators Name: | Fokstuen, S., Munoz, A., Melacini, P., Iliceto, S., Perrot, A., Ozcelik, C., Jeanrenaud, X., Rieubland, C., Farr, M., Faber, L., Sigwart, U., Mach, F., Lerch, R., Antonarakis, S.E. and Blouin, J.L. |
| Abstract: | Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease (1/500) and the most common cause of sudden cardiac death in young people. Pathogenic mutation detection of HCM is having a growing impact on the medical management of patients and their families. However, the remarkable genetic and allelic heterogeneity makes molecular analysis by conventional methods very time-consuming, expensive and difficult to realise in a routine diagnostic molecular laboratory. Method and results: The authors used their custom DNA resequencing array which interrogates all possible single-nucleotide variants on both strands of all exons (n=160), splice sites and 5'-untranslated region of 12 HCM genes (27 000 nucleotides). The results for 122 unrelated patients with HCM are presented. Thirty-three known or novel potentially pathogenic heterozygous single-nucleotide variants were identified in 38 patients (31%) in genes MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL3 and ACTC1. Conclusions: Although next-generation sequencing will replace all large-scale sequencing platforms for inherited cardiac disorders in the near future, this HCM resequencing array is currently the most rapid, cost-effective and reasonably efficient technology for first-tier mutation screening of HCM in clinical practice. Because of its design, the array is also an appropriate tool for initial screening of other inherited forms of cardiomyopathy. |
| Keywords: | Hypertrophic Cardiomyopathy, Genetic Variation, Heterozygote, Oligonucleotide Array Sequence Analysis, Single Nucleotide Polymorphism , Professional Practice, DNA Sequence Analysis |
| Source: | Journal of Medical Genetics |
| ISSN: | 0022-2593 |
| Publisher: | BMJ Publishing Group |
| Volume: | 48 |
| Number: | 8 |
| Page Range: | 572-576 |
| Date: | August 2011 |
| Official Publication: | https://doi.org/10.1136/jmg.2010.083345 |
| PubMed: | View item in PubMed |
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