A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation
Abstract PRKAG2 syndrome is a rare autosomal dominant inherited disorder that is characterized by cardiac hypertrophy, ventricular pre-excitation and conduction system abnormalities. There is little knowledge in cardiovascular magnetic resonance (CMR) characteristics of PRKAG2 cardiomyopathy. This s...
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2017
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oai:doaj.org-article:5acc6955e994498e811bcbc02fa0346f2021-12-02T12:30:13ZA novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation10.1038/s41598-017-02455-z2045-2322https://doaj.org/article/5acc6955e994498e811bcbc02fa0346f2017-05-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-02455-zhttps://doaj.org/toc/2045-2322Abstract PRKAG2 syndrome is a rare autosomal dominant inherited disorder that is characterized by cardiac hypertrophy, ventricular pre-excitation and conduction system abnormalities. There is little knowledge in cardiovascular magnetic resonance (CMR) characteristics of PRKAG2 cardiomyopathy. This study investigated the genetic defect in a three-generation Chinese family with cardiac hypertrophy and ventricular pre-excitation using whole-exome sequencing. A novel missense mutation, c.1006 G > T (p.V336L), was identified in PRKAG2. This mutation had not been identified in the ExAC database, and the prediction result of MutationTaster indicated a deleterious effect. Furthermore, it cosegregated with the disease in the present family and was absent in unrelated 300 healthy controls. cDNA analysis did not detect any splicing defects, although the variant occurred in the first base of exon 9. CMR evaluation in five affected members showed diffuse hypertrophy in a concentric pattern, with markedly increased left ventricular mass above age and gender limits (median 151.3 g/m2, range 108.4–233.4 g/m2). Two patients in progressive stage and one patient with sudden cardiac death exhibited extensive subendocardial late gadolinium enhancement. In conclusion, molecular screening for PRKAG2 mutations should be considered in patients who exhibit cardiac hypertrophy coexisting with ventricular pre-excitation. CMR offers promising advantages for evaluation of PRKAG2 cardiomyopathy.Kun-Qi YangChao-Xia LuYing ZhangYan-Kun YangJia-Cheng LiTian LanXu MengPeng FanTao TianLin-Ping WangYa-Xin LiuXue ZhangXian-Liang ZhouNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-11 (2017) |
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Medicine R Science Q Kun-Qi Yang Chao-Xia Lu Ying Zhang Yan-Kun Yang Jia-Cheng Li Tian Lan Xu Meng Peng Fan Tao Tian Lin-Ping Wang Ya-Xin Liu Xue Zhang Xian-Liang Zhou A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation |
| description |
Abstract PRKAG2 syndrome is a rare autosomal dominant inherited disorder that is characterized by cardiac hypertrophy, ventricular pre-excitation and conduction system abnormalities. There is little knowledge in cardiovascular magnetic resonance (CMR) characteristics of PRKAG2 cardiomyopathy. This study investigated the genetic defect in a three-generation Chinese family with cardiac hypertrophy and ventricular pre-excitation using whole-exome sequencing. A novel missense mutation, c.1006 G > T (p.V336L), was identified in PRKAG2. This mutation had not been identified in the ExAC database, and the prediction result of MutationTaster indicated a deleterious effect. Furthermore, it cosegregated with the disease in the present family and was absent in unrelated 300 healthy controls. cDNA analysis did not detect any splicing defects, although the variant occurred in the first base of exon 9. CMR evaluation in five affected members showed diffuse hypertrophy in a concentric pattern, with markedly increased left ventricular mass above age and gender limits (median 151.3 g/m2, range 108.4–233.4 g/m2). Two patients in progressive stage and one patient with sudden cardiac death exhibited extensive subendocardial late gadolinium enhancement. In conclusion, molecular screening for PRKAG2 mutations should be considered in patients who exhibit cardiac hypertrophy coexisting with ventricular pre-excitation. CMR offers promising advantages for evaluation of PRKAG2 cardiomyopathy. |
| format |
article |
| author |
Kun-Qi Yang Chao-Xia Lu Ying Zhang Yan-Kun Yang Jia-Cheng Li Tian Lan Xu Meng Peng Fan Tao Tian Lin-Ping Wang Ya-Xin Liu Xue Zhang Xian-Liang Zhou |
| author_facet |
Kun-Qi Yang Chao-Xia Lu Ying Zhang Yan-Kun Yang Jia-Cheng Li Tian Lan Xu Meng Peng Fan Tao Tian Lin-Ping Wang Ya-Xin Liu Xue Zhang Xian-Liang Zhou |
| author_sort |
Kun-Qi Yang |
| title |
A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation |
| title_short |
A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation |
| title_full |
A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation |
| title_fullStr |
A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation |
| title_full_unstemmed |
A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation |
| title_sort |
novel prkag2 mutation in a chinese family with cardiac hypertrophy and ventricular pre-excitation |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/5acc6955e994498e811bcbc02fa0346f |
| work_keys_str_mv |
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