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

被引：43

作者：

Kassem, Heba Sh. ^{[1
,2
,3
,10
]}

Azer, Remon S. ^{[1
]}

Ayad, Maha S. ^{[4
,5
]}

Moharem-Elgamal, Sarah ^{[1
,6
]}

Magdy, Gehan ^{[1
,7
]}

Elguindy, Ahmed ^{[1
]}

Cecchi, Franco ^{[8
]}

Olivotto, Iacopo ^{[8
]}

Yacoub, Magdi H. ^{[1
,9
]}

机构：

[1] Magdi Yacoub Heart Fdn, Cairo, Egypt

[2] Alexandria Fac Med, Dept Pathol, Alexandria, Egypt

[3] Alexandria Fac Med, Clin Genom Ctr, Alexandria, Egypt

[4] Univ Sharjah, Cairo Fac Med, Dept Pharmacol, Sharjah, U Arab Emirates

[5] Univ Sharjah, Coll Pharm, Sharjah, U Arab Emirates

[6] Natl Heart Inst, Cairo, Egypt

[7] Alexandria Fac Med, Dept Cardiol, Alexandria, Egypt

[8] Azienda Osped Univ Careggi, Dept Cardiol, Florence, Italy

[9] Univ London Imperial Coll Sci Technol & Med, London, England

[10] Bibliotheca Alexandrina Yacoub Mol Genet Lab, Alexandria, Egypt

来源：

JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH | 2013年 / 6卷 / 01期

关键词：

Sarcomeric genotyping; HCM genetics; Egypt; MYOSIN HEAVY-CHAIN; CARDIAC TROPONIN-T; BINDING-PROTEIN-C; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; MUTATIONS; SPECTRUM; COHORT; IDENTIFICATION; SUBSTITUTION; DIAGNOSIS;

D O I：

10.1007/s12265-012-9425-0

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：65 / 80

页数：16

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