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Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family

  • Authors:
    • Dong‑Ling Xu
    • Hong‑Liang Tian
    • Wei‑Li Cai
    • Jie Zheng
    • Min Gao
    • Ming‑Xiang Zhang
    • Zhao-Tong Zheng
    • Qing‑Hua Lu
  • View Affiliations / Copyright

    Affiliations: Department of Cardiology, The Second Hospital of Shandong University, Jinan, Shandong 250012, P.R. China, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education and Chinese Ministry of Public Health, Qilu Hospital of Shandong University, Jinan, Shandong 250012, P.R. China, Department of Cardiology, The Third Hospital of Jinan, Jinan, Shandong 250021, P.R. China
    Copyright: © Xu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 649-654
    |
    Published online on: May 18, 2016
       https://doi.org/10.3892/mmr.2016.5297
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Abstract

The aim of the present study was to identify the genetic defect responsible for familial coronary artery disease/myocardial infarction (CAD/MI), which exhibited an autosomal dominant pattern of inheritance, in an extended Chinese Han pedigree containing 34 members. Using exome and Sanger sequencing, a novel 6‑base pair (bp) ‘CAGCCG’ deletion in exon 11 of the myocyte enhancer factor 2A (MEF2A) gene was identified, which cosegregated with CAD/MI cases in this family. This 6‑bp deletion was not detected in 311 sporadic cases of premature CAD/MI or in 323 unrelated healthy controls. Determination of a genetic risk profile has a key role in understanding the pathogenesis of CAD and MI. Among the reported risk‑conferring genes and their variants, mutations in MEF2A have been reported to segregate with CAD/MI in Caucasian families. Causative missense mutations have also been detected in sporadic CAD/MI cases. However, this suggested genetic linkage is controversial, since it could not be confirmed by ensuing studies. The discovery of a novel MEF2A mutation in a Chinese family with premature CAD/MI suggests that MEF2A may have a significant role in the pathogenesis of premature CAD/MI. To better understand this association, further in vitro and in vivo studies are required.
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Copy and paste a formatted citation
Spandidos Publications style
Xu DL, Tian HL, Cai WL, Zheng J, Gao M, Zhang MX, Zheng Z and Lu QH: Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family. Mol Med Rep 14: 649-654, 2016.
APA
Xu, D., Tian, H., Cai, W., Zheng, J., Gao, M., Zhang, M. ... Lu, Q. (2016). Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family. Molecular Medicine Reports, 14, 649-654. https://doi.org/10.3892/mmr.2016.5297
MLA
Xu, D., Tian, H., Cai, W., Zheng, J., Gao, M., Zhang, M., Zheng, Z., Lu, Q."Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family". Molecular Medicine Reports 14.1 (2016): 649-654.
Chicago
Xu, D., Tian, H., Cai, W., Zheng, J., Gao, M., Zhang, M., Zheng, Z., Lu, Q."Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family". Molecular Medicine Reports 14, no. 1 (2016): 649-654. https://doi.org/10.3892/mmr.2016.5297
Copy and paste a formatted citation
x
Spandidos Publications style
Xu DL, Tian HL, Cai WL, Zheng J, Gao M, Zhang MX, Zheng Z and Lu QH: Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family. Mol Med Rep 14: 649-654, 2016.
APA
Xu, D., Tian, H., Cai, W., Zheng, J., Gao, M., Zhang, M. ... Lu, Q. (2016). Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family. Molecular Medicine Reports, 14, 649-654. https://doi.org/10.3892/mmr.2016.5297
MLA
Xu, D., Tian, H., Cai, W., Zheng, J., Gao, M., Zhang, M., Zheng, Z., Lu, Q."Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family". Molecular Medicine Reports 14.1 (2016): 649-654.
Chicago
Xu, D., Tian, H., Cai, W., Zheng, J., Gao, M., Zhang, M., Zheng, Z., Lu, Q."Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family". Molecular Medicine Reports 14, no. 1 (2016): 649-654. https://doi.org/10.3892/mmr.2016.5297
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