Early Results of Sarcomeric Gene Screening from the Egyptian National BA-HCM Program

The present study comprised sarcomeric genotyping of the three most commonly involved sarcomeric genes: MYBPC3 , MYH7 , and TNNT2 in 192 unrelated Egyptian hypertrophic cardiomyopathy (HCM) index patients. Mutations were detected in 40 % of cases. Presence of positive family history was significantl...

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Bibliographic Details
Published in:Journal of cardiovascular translational research 2013-02, Vol.6 (1), p.65-80
Main Authors: Kassem, Heba Sh, Azer, Remon S., Ayad, Maha S., Moharem-Elgamal, Sarah, Magdy, Gehan, Elguindy, Ahmed, Cecchi, Franco, Olivotto, Iacopo, Yacoub, Magdi H.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Biomedical Engineering and Bioengineering
Biomedicine
Cardiac Myosins - genetics
Cardiology
Cardiomyopathy, Hypertrophic - epidemiology
Cardiomyopathy, Hypertrophic - genetics
Carrier Proteins - genetics
Child
Child, Preschool
CpG Islands
DNA Mutational Analysis
Egypt - epidemiology
Female
Genetic Predisposition to Disease
Genetic Testing - methods
Human Genetics
Humans
Male
Medicine
Medicine & Public Health
Middle Aged
Mutation
Myosin Heavy Chains - genetics
Phenotype
Prognosis
Sarcomeres
Troponin T - genetics
Young Adult
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Summary:The present study comprised sarcomeric genotyping of the three most commonly involved sarcomeric genes: MYBPC3 , MYH7 , and TNNT2 in 192 unrelated Egyptian hypertrophic cardiomyopathy (HCM) index patients. Mutations were detected in 40 % of cases. Presence of positive family history was significantly ( p  = 0.002) associated with a higher genetic positive yield (49/78, 62.8 %). The majority of the detected mutations in the three sarcomeric genes were novel (40/62, 65 %) and mostly private (47/62, 77 %). Single nucleotide substitution was the most frequently detected mutation type (51/62, 82 %). Over three quarters of these substitutions (21/27, 78 %) involved CpG dinucleotide sites and resulted from C > T or G > A transition in the three analyzed genes, highlighting the significance of CpG high mutability within the sarcomeric genes examined. This study could aid in global comparative studies in different ethnic populations and constitutes an important step in the evolution of the integrated clinical, translational, and basic science HCM program.
ISSN:1937-5387
1937-5395
DOI:10.1007/s12265-012-9425-0