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Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation
Jing Zhang1,2,3, Xiu Han1, Qun Lu1
1Department of Cardiovascular Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China.
BMC Medical Genomics
|October 11, 2022
Summary
A novel PRKAG2 gene mutation, c.905G>A (p.R302Q), is identified as the cause of familial left ventricular non-compaction cardiomyopathy (LVNC) in a Chinese family. This finding expands the understanding of genetic factors contributing to this inherited heart condition.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Left ventricular non-compaction cardiomyopathy (LVNC) is a prevalent inherited cardiovascular disease with incompletely understood genetic underpinnings.
- Phenotypic heterogeneity is observed among individuals with LVNC.
Purpose of the Study:
- To investigate the genetic basis of familial LVNC in a Chinese family.
- To identify specific genetic mutations responsible for LVNC in affected individuals.
Main Methods:
- Collected clinical data, family histories, and blood samples from 15 subjects in a Chinese family.
- Performed next-generation sequencing (NGS) for genetic analysis.
Main Results:
- A heterozygous missense mutation, c.905G>A (p.R302Q), in the PRKAG2 gene (encoding the gamma-2 subunit of AMP-activated protein kinase) was identified in subjects with LVNC.
- Individuals without this specific PRKAG2 mutation did not exhibit LVNC-related symptoms or cardiac abnormalities.
- Sudden cardiac death occurred in one affected subject.
Conclusions:
- The PRKAG2 mutation c.905G>A (p.R302Q) is confirmed as the causative agent of familial LVNC in this cohort.
- This identified mutation expands the known spectrum of PRKAG2-associated LVNC phenotypes and contributes to understanding its genetic etiology.
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