Clinical & Experimental Cardiology
Open Access

Spectrum of mutations in hypertrophic cardiomyopathy main genes among Tunisian patients

13^th European Cardiology Conference

December 05-06, 2016 Madrid, Spain

Nawel Jaafar

University of Monastir, Tunisia

Posters & Accepted Abstracts: J Clin Exp Cardiolog

Abstract :

Hypertrophic Cardiomyopathy (HCM) is a common genetic cardiac disorder, caused by mutations in genes encoding for sarcomere proteins and transmitted in an autosomal dominant form. Data about the mutational spectrum in HCM patients from North Africa is limited. We performed semiconductor ship (Ion Torrent PGM) next generation sequencing of the main sarcomeric genes (MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, TNNC1, MYL2, MYL3, TPM1) in 45 Tunisian HCM patients. Overall, we found a total of 14 carriers (31%) with MYH7and MYBPC3 presenting 75% of the mutations. A patient was homozygous for a new MYL3 mutation and two patients were double mutation carriers (MYBPC3+MYH7). In conclusion, we did report the mutational spectrum of the main genes in Tunisian HCM patients and like studied other ethnic groups, mutations in MYBPC3 and MYH7 are the most frequent.

Biography :

Nawel Jaafar has received her BSc degree in Medical Biotechnology and MSc degree in Genetics and Biodiversity in the High Institute of Biotechnology, Monastir, Tunisia. Currently, she is a PhD student in Biological Sciences and Biotechnology. She achieved several projects in Molecular Biology and Genetics fields.

Email: jaf.nawel@gmail.com