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- Title
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
- 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 2 (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.
- Subjects
CARDIAC hypertrophy; UROTENSINS; NUCLEOTIDE sequencing; PROTEIN kinases; WOLFF-Parkinson-White syndrome; GENETIC mutation; SUDDEN death; HEALTH of Chinese people
- Publication
Molecular Medicine Reports, 2015, Vol 12, Issue 3, p3662
- ISSN
1791-2997
- Publication type
Article
- DOI
10.3892/mmr.2015.3818