Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation
Abstract Left ventricular non-compaction cardiomyopathy (LVNC) is one of the most common inherited cardiovascular diseases. The genetic backgrounds of most LVNC patients are not fully understood. We collected clinical data, family histories, and blood samples and performed genetic analysis using nex...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-10-01
|
| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-022-01361-2 |
| _version_ | 1811238739054166016 |
|---|---|
| author | Jing Zhang Xiu Han Qun Lu Yunfei Feng Aiqun Ma Tingzhong Wang |
| author_facet | Jing Zhang Xiu Han Qun Lu Yunfei Feng Aiqun Ma Tingzhong Wang |
| author_sort | Jing Zhang |
| collection | DOAJ |
| description | Abstract Left ventricular non-compaction cardiomyopathy (LVNC) is one of the most common inherited cardiovascular diseases. The genetic backgrounds of most LVNC patients are not fully understood. We collected clinical data, family histories, and blood samples and performed genetic analysis using next-generation sequencing (NGS) from a Chinese family of 15 subjects. Clinically LVNC affected subjects showed marked cardiac phenotype heterogeneity. We found that these subjects with LVNC carried a missense heterozygous genetic mutation c.905G>A (p.R302Q) in γ2 subunit of AMP-activated protein kinase (PRKAG2) gene through NGS. Individuals without this mutation showed no symptoms or cardiac structural abnormalities related to LVNC. One subject was the victim of sudden cardiac death. To sum up, PRKAG2 mutation c.905G>A (p.R302Q) caused familial LVNC. Our results described a potentially pathogenic mutation associated with LVNC, which may further extend the spectrum of LVNC phenotypes related to PRKAG2 gene mutations. |
| first_indexed | 2024-04-12T12:47:29Z |
| format | Article |
| id | doaj.art-aa939fbe7d2f46a3b045018bbde302c7 |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-04-12T12:47:29Z |
| publishDate | 2022-10-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-aa939fbe7d2f46a3b045018bbde302c72022-12-22T03:32:34ZengBMCBMC Medical Genomics1755-87942022-10-011511810.1186/s12920-022-01361-2Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutationJing Zhang0Xiu Han1Qun Lu2Yunfei Feng3Aiqun Ma4Tingzhong Wang5Department of Cardiovascular Medicine, The First Affiliated Hospital of Xi’an Jiaotong UniversityDepartment of Cardiovascular Medicine, The First Affiliated Hospital of Xi’an Jiaotong UniversityDepartment of Cardiovascular Medicine, The First Affiliated Hospital of Xi’an Jiaotong UniversityDepartment of Cardiovascular Medicine, The First Affiliated Hospital of Xi’an Jiaotong UniversityDepartment of Cardiovascular Medicine, The First Affiliated Hospital of Xi’an Jiaotong UniversityDepartment of Cardiovascular Medicine, The First Affiliated Hospital of Xi’an Jiaotong UniversityAbstract Left ventricular non-compaction cardiomyopathy (LVNC) is one of the most common inherited cardiovascular diseases. The genetic backgrounds of most LVNC patients are not fully understood. We collected clinical data, family histories, and blood samples and performed genetic analysis using next-generation sequencing (NGS) from a Chinese family of 15 subjects. Clinically LVNC affected subjects showed marked cardiac phenotype heterogeneity. We found that these subjects with LVNC carried a missense heterozygous genetic mutation c.905G>A (p.R302Q) in γ2 subunit of AMP-activated protein kinase (PRKAG2) gene through NGS. Individuals without this mutation showed no symptoms or cardiac structural abnormalities related to LVNC. One subject was the victim of sudden cardiac death. To sum up, PRKAG2 mutation c.905G>A (p.R302Q) caused familial LVNC. Our results described a potentially pathogenic mutation associated with LVNC, which may further extend the spectrum of LVNC phenotypes related to PRKAG2 gene mutations.https://doi.org/10.1186/s12920-022-01361-2Left ventricular non-compaction cardiomyopathyGene mutationNext generation sequencing |
| spellingShingle | Jing Zhang Xiu Han Qun Lu Yunfei Feng Aiqun Ma Tingzhong Wang Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation BMC Medical Genomics Left ventricular non-compaction cardiomyopathy Gene mutation Next generation sequencing |
| title | Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation |
| title_full | Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation |
| title_fullStr | Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation |
| title_full_unstemmed | Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation |
| title_short | Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation |
| title_sort | left ventricular non compaction cardiomyopathy associated with the prkag2 mutation |
| topic | Left ventricular non-compaction cardiomyopathy Gene mutation Next generation sequencing |
| url | https://doi.org/10.1186/s12920-022-01361-2 |
| work_keys_str_mv | AT jingzhang leftventricularnoncompactioncardiomyopathyassociatedwiththeprkag2mutation AT xiuhan leftventricularnoncompactioncardiomyopathyassociatedwiththeprkag2mutation AT qunlu leftventricularnoncompactioncardiomyopathyassociatedwiththeprkag2mutation AT yunfeifeng leftventricularnoncompactioncardiomyopathyassociatedwiththeprkag2mutation AT aiqunma leftventricularnoncompactioncardiomyopathyassociatedwiththeprkag2mutation AT tingzhongwang leftventricularnoncompactioncardiomyopathyassociatedwiththeprkag2mutation |