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Article

Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family

  • Authors:
    • Tian Pu
    • Qianqian Guo
    • Ruixue Cao
    • Rang Xu
    • Kun Sun
    • Sun Chen
  • View Affiliations / Copyright

    Affiliations: Department of Pediatric Cardiology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China, Scientific Research Center, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China
  • Pages: 3662-3666
    |
    Published online on: May 22, 2015
       https://doi.org/10.3892/mmr.2015.3818
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Abstract

Myocardial hypertrophy is a common feature of numerous diseases. It is important to distinguish between these diseases in order to enable accurate diagnosis and the administration of appropriate therapy. Using whole‑exome sequencing, the present study aimed to identify a pathogenic mutation in a Chinese family, which may lead to cardiac hypertrophy and Wolff‑Parkinson‑White syndrome. The proband from the Chinese family exhibited left ventricular hypertrophy and pre-excitation with a short PR interval. DNA was extracted from peripheral blood obtained from the subject family, and exome sequencing was performed in the proband. Polymerase chain reaction and direct sequencing were used to confirm the presence of a mutation, and confirmed that the pathogenic mutation was 5'-AMP‑activated protein kinase subunit γ2 (PRKAG2) (p.R302Q), which has been previously reported in a family with an inherited from of WPW. A stop‑gain mutation in urotensin II receptor (UTS2R) (p.S241X), which is associated with congestive heart failure, was identified in the proband and in one other affected family member. It is important to identify the causes of myocardial hypertrophy, in order to provide a theoretical basis with which to improve clinical diagnosis and the assessment of prognosis. The results of the present study suggest that if a patient has myocardial hypertrophy with a short PR interval on electrocardiogram, a mutation in the PRKAG2 gene should be considered. In conclusion, exome sequencing methods may assist with the identification of causative genes in myocardial hypertrophy, as well as genes that are associated with an increased risk of sudden cardiac death.
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Copy and paste a formatted citation
Spandidos Publications style
Pu T, Guo Q, Cao R, Xu R, Sun K and Chen S: Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family. Mol Med Rep 12: 3662-3666, 2015.
APA
Pu, T., Guo, Q., Cao, R., Xu, R., Sun, K., & Chen, S. (2015). Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family. Molecular Medicine Reports, 12, 3662-3666. https://doi.org/10.3892/mmr.2015.3818
MLA
Pu, T., Guo, Q., Cao, R., Xu, R., Sun, K., Chen, S."Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family". Molecular Medicine Reports 12.3 (2015): 3662-3666.
Chicago
Pu, T., Guo, Q., Cao, R., Xu, R., Sun, K., Chen, S."Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family". Molecular Medicine Reports 12, no. 3 (2015): 3662-3666. https://doi.org/10.3892/mmr.2015.3818
Copy and paste a formatted citation
x
Spandidos Publications style
Pu T, Guo Q, Cao R, Xu R, Sun K and Chen S: Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family. Mol Med Rep 12: 3662-3666, 2015.
APA
Pu, T., Guo, Q., Cao, R., Xu, R., Sun, K., & Chen, S. (2015). Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family. Molecular Medicine Reports, 12, 3662-3666. https://doi.org/10.3892/mmr.2015.3818
MLA
Pu, T., Guo, Q., Cao, R., Xu, R., Sun, K., Chen, S."Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family". Molecular Medicine Reports 12.3 (2015): 3662-3666.
Chicago
Pu, T., Guo, Q., Cao, R., Xu, R., Sun, K., Chen, S."Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family". Molecular Medicine Reports 12, no. 3 (2015): 3662-3666. https://doi.org/10.3892/mmr.2015.3818
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