title: Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family.
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.
authors.affiliation: Department of Pediatric Cardiology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Tian
authors.initials: T
authors.lastname: Pu
authors.affiliation: Department of Pediatric Cardiology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Qianqian
authors.initials: Q
authors.lastname: Guo
authors.affiliation: Department of Pediatric Cardiology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Ruixue
authors.initials: R
authors.lastname: Cao
authors.affiliation: Scientific Research Center, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Rang
authors.initials: R
authors.lastname: Xu
authors.affiliation: Department of Pediatric Cardiology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Kun
authors.initials: K
authors.lastname: Sun
authors.affiliation: Department of Pediatric Cardiology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Sun
authors.initials: S
authors.lastname: Chen
mesh_terms: D055372:AMP-Activated Protein Kinases / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D006332:Cardiomegaly / Q000235:genetics*; D002648:Child; D059472:Exome; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D014927:Wolff-Parkinson-White Syndrome / Q000235:genetics
chemical_list: C526223:PRKAG2 protein, human; D055372:AMP-Activated Protein Kinases