Format

Send to

Choose Destination
See comment in PubMed Commons below
J Cardiovasc Transl Res. 2013 Feb;6(1):65-80. doi: 10.1007/s12265-012-9425-0. Epub 2012 Dec 12.

Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Author information

1
Magdi Yacoub Heart Foundation, Cairo, Egypt. heba.kassem@gmail.com

Erratum in

  • J Cardiovasc Transl Res. 2013 Aug;6(4):663. Ayad, Maha S [corrected to Saber-Ayad, Maha].

Abstract

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.

PMID:
23233322
PMCID:
PMC3546296
DOI:
10.1007/s12265-012-9425-0
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer Icon for PubMed Central
    Loading ...
    Support Center