Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy.

doi:10.3892/mmr.2019.10754

Article

Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy.

Molecular medicine reports - 1 Dec 2019

Wang Bo, Wang Jing, Wang Li-Feng, Yang Fan, Xu Lei, Li Wen-Xia, He Yang, Zuo Lei, Yang Qian-Li, Shao Hong, Hu Dan, Liu Li-Wen

Abstract excerpt

β‑myosin heavy chain (MHC) 7 (MYH7) is the dominant pathogenic gene that harbors mutations in 20‑30% of cases of familial hypertrophic cardiomyopathy (HCM). The aim of this study was to elucidate the distribution and type of genetic variations among Chinese HCM families. From 2013 to 2017, the clinical data of 387 HCM probands and their families were collected. Targeted exome‑sequencing technology was used in all...

Topics

Adolescent
Adult
Alleles
Amino Acid Substitution
Cardiac Myosins
Cardiomyopathy, Hypertrophic, Familial
Child
Child, Preschool
Clinical Decision-Making
DNA Mutational Analysis

Disease Management

Echocardiography

Electrocardiography

Female

Genetic Association Studies

Genetic Predisposition to Disease

Genetic Testing

Genotype

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