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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Early results of sarcomeric gene screening from the egyptian national BA-HCM program
Journal of Cardiovascular Translational Research, Volume 6, No. 1, Year 2013
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Description
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. © 2012 The Author(s).
Authors & Co-Authors
Kassem, Heba Sh
Egypt, Cairo
Magdi Yacoub Foundation
Egypt, Alexandria
Faculty of Medicine
Egypt, Alexandria
Bibliotheca Alexandrina
Azer, Remon Sobhy
Egypt, Cairo
Magdi Yacoub Foundation
Ayad, Maha Saber
United Arab Emirates, Sharjah
University of Sharjah
Moharem-Elgamal, Sarah
Egypt, Cairo
Magdi Yacoub Foundation
Egypt, Cairo
National Heart Institute
Magdy, Gehan
Egypt, Cairo
Magdi Yacoub Foundation
Egypt, Alexandria
Faculty of Medicine
ElGuindy, Ahmed Mohamed
Egypt, Cairo
Magdi Yacoub Foundation
Cecchi, Franco
Italy, Florence
Azienda Ospedaliera Careggi
Olivotto, Iacopo
Italy, Florence
Azienda Ospedaliera Careggi
Yacoub, Magdi H.
Egypt, Cairo
Magdi Yacoub Foundation
United Kingdom, London
Imperial College London
Statistics
Citations: 34
Authors: 9
Affiliations: 7
Identifiers
Doi:
10.1007/s12265-012-9425-0
ISSN:
19375387
e-ISSN:
19375395
Research Areas
Cancer
Genetics And Genomics