Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different?

Authors

  • Nawel Jaafar Biochemistry Laboratory, LR12ES05 ‘Nutrition-Functional Food & Vascular Health’, USCR Mass Spectrometry, Faculty of Medicine, University of Monastir, Tunisia
  • Francesca Girolami Genetic Diagnostics Unit, Careggi University Hospital, Florence, Italy
  • Ihsen Zairi Department of Cardiology, Habib Thameur Hospital, Tunis, Tunisia
  • Sondes Kraiem Department of Cardiology, Habib Thameur Hospital, Tunis, Tunisia
  • Mohammed Hammami Biochemistry Laboratory, LR12ES05 ‘Nutrition-Functional Food & Vascular Health’, USCR Mass Spectrometry, Faculty of Medicine, University of Monastir, Tunisia
  • Iacopo Olivotto Referral Center for Cardiomyopathies, Careggi University Hospital, Florence, Italy

Abstract

We recently performed next generation sequencing (NGS) genetic screening in 11 consecutive and unrelated Tunisian HCM probands seen at Habib Thameur Hospital in Tunis in the first 6 months of 2014, as part of a cooperative study between our Institutions. The clinical diagnosis of HCM was made according to standard criteria. Using the Illumina platform, a panel of 12 genes was analyzed including myosin binding protein C (MYBPC3), beta-myosin heavy chain (MYH7), regulatory and essential light chains (MYL2 and MYL3), troponin-T (TNNT2), troponin-I (TNNI3), troponin-C (TNNC1), alpha-tropomyosin (TPM1), alpha-actin (ACTC1), alpha-actinin-2 (ACTN2) as well as alfa-galactosidase (GLA), 5′-AMP-activated protein (PKRAG2), transthyretin (TTR) and lysosomal-associated membrane protein-2 (LAMP2) for exclusion of phenocopies. Our preliminary data, despite limitations inherent to the small sample size, suggest that HCM in Tunisia may have a peculiar genetic background which privileges rare genes overs the classic HCM-associated MHY7 and MYBPC3 genes.

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Published

2017-07-07

Issue

Vol. 2015 No. 1 (2015)

Section

Early communication

License

This is an open access article distributed under the terms of the Creative Commons Attribution license CC BY 4.0, which permits unrestricted use, distribution and reproduction in any medium, provided the original work is properly cited.