Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation

Abstract Background The left ventricular noncompaction cardiomyopathy (LVNC) is a rare subtype of cardiomyopathy associated with a high risk of heart failure (HF), thromboembolism, arrhythmia, and sudden cardiac death. Methods The proband with overlap phenotypes of LVNC and hypertrophic cardiomyopat...

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Autores principales:	Yubi Lin, Jiana Huang, Zhiling Zhu, Zuoquan Zhang, Jianzhong Xian, Zhe Yang, Tingfeng Qin, Linxi Chen, Jingmin Huang, Yin Huang, Qiaoyun Wu, Zhenyu Hu, Xiufang Lin, Geyang Xu
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Heart failure desmocollin2 Desmosome Medicine R
Acceso en línea:	https://doaj.org/article/b3e6c9c83b694df3905510680191efee
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spelling	oai:doaj.org-article:b3e6c9c83b694df3905510680191efee2021-11-28T12:22:42ZOverlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation10.1186/s13023-021-02112-91750-1172https://doaj.org/article/b3e6c9c83b694df3905510680191efee2021-11-01T00:00:00Zhttps://doi.org/10.1186/s13023-021-02112-9https://doaj.org/toc/1750-1172Abstract Background The left ventricular noncompaction cardiomyopathy (LVNC) is a rare subtype of cardiomyopathy associated with a high risk of heart failure (HF), thromboembolism, arrhythmia, and sudden cardiac death. Methods The proband with overlap phenotypes of LVNC and hypertrophic cardiomyopathy (HCM) complicates atrial fibrillation (AF), ventricular tachycardia (VT), and HF due to the diffuse myocardial lesion, which were diagnosed by electrocardiogram, echocardiogram and cardiac magnetic resonance imaging. Peripheral blood was collected from the proband and his relatives. DNA was extracted from the peripheral blood of proband for high-throughput target capture sequencing. The Sanger sequence verified the variants. The protein was extracted from the skin of the proband and healthy volunteer. The expression difference of desmocollin2 was detected by Western blot. Results The novel heterozygous truncated mutation (p.K47Rfs2) of the DSC2 gene encoding an important component of desmosomes was detected by targeted capture sequencing. The western blots showed that the expressing level of functional desmocollin2 protein (~ 94kd) was lower in the proband than that in the healthy volunteer, indicating that DSC2 p.K47Rfs2 obviously reduced the functional desmocollin2 protein expression in the proband. Conclusion The heterozygous DSC2 p.K47Rfs*2 remarkably and abnormally reduced the functional desmocollin2 expression, which may potentially induce the overlap phenotypes of LVNC and HCM, complicating AF, VT, and HF.Yubi LinJiana HuangZhiling ZhuZuoquan ZhangJianzhong XianZhe YangTingfeng QinLinxi ChenJingmin HuangYin HuangQiaoyun WuZhenyu HuXiufang LinGeyang XuBMCarticleLeft ventricular noncompaction cardiomyopathyHypertrophic cardiomyopathyHeart failuredesmocollin2DesmosomeMedicineRENOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-33 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Heart failure desmocollin2 Desmosome Medicine R
spellingShingle	Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Heart failure desmocollin2 Desmosome Medicine R Yubi Lin Jiana Huang Zhiling Zhu Zuoquan Zhang Jianzhong Xian Zhe Yang Tingfeng Qin Linxi Chen Jingmin Huang Yin Huang Qiaoyun Wu Zhenyu Hu Xiufang Lin Geyang Xu Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation
description	Abstract Background The left ventricular noncompaction cardiomyopathy (LVNC) is a rare subtype of cardiomyopathy associated with a high risk of heart failure (HF), thromboembolism, arrhythmia, and sudden cardiac death. Methods The proband with overlap phenotypes of LVNC and hypertrophic cardiomyopathy (HCM) complicates atrial fibrillation (AF), ventricular tachycardia (VT), and HF due to the diffuse myocardial lesion, which were diagnosed by electrocardiogram, echocardiogram and cardiac magnetic resonance imaging. Peripheral blood was collected from the proband and his relatives. DNA was extracted from the peripheral blood of proband for high-throughput target capture sequencing. The Sanger sequence verified the variants. The protein was extracted from the skin of the proband and healthy volunteer. The expression difference of desmocollin2 was detected by Western blot. Results The novel heterozygous truncated mutation (p.K47Rfs2) of the DSC2 gene encoding an important component of desmosomes was detected by targeted capture sequencing. The western blots showed that the expressing level of functional desmocollin2 protein (~ 94kd) was lower in the proband than that in the healthy volunteer, indicating that DSC2 p.K47Rfs2 obviously reduced the functional desmocollin2 protein expression in the proband. Conclusion The heterozygous DSC2 p.K47Rfs*2 remarkably and abnormally reduced the functional desmocollin2 expression, which may potentially induce the overlap phenotypes of LVNC and HCM, complicating AF, VT, and HF.
format	article
author	Yubi Lin Jiana Huang Zhiling Zhu Zuoquan Zhang Jianzhong Xian Zhe Yang Tingfeng Qin Linxi Chen Jingmin Huang Yin Huang Qiaoyun Wu Zhenyu Hu Xiufang Lin Geyang Xu
author_facet	Yubi Lin Jiana Huang Zhiling Zhu Zuoquan Zhang Jianzhong Xian Zhe Yang Tingfeng Qin Linxi Chen Jingmin Huang Yin Huang Qiaoyun Wu Zhenyu Hu Xiufang Lin Geyang Xu
author_sort	Yubi Lin
title	Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation
title_short	Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation
title_full	Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation
title_fullStr	Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation
title_full_unstemmed	Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation
title_sort	overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated dsc2 mutation
publisher	BMC
publishDate	2021
url	https://doaj.org/article/b3e6c9c83b694df3905510680191efee
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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation

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