Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation-Reference-Cited by-同舟云学术

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Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation

Published:2018-08-21 Issue:1 Volume:19 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Lin Yubi^ORCID,Huang Jiana,He Siqi,Feng Ruiling,Zhong ZhiAn,Liu Yang,Ye Weitao,Li Xin,Liao Hongtao,Fei Hongwen,Rao Fang,Shan Zhixin,Deng Chunyu,Zhan Xianzhang,Xue Yumei,Liu Hui,Zhang Bin,Wang Kejian,Zhang Qianhuan,Wu Shulin,Lin Xiufang

Funder

The study was supported by the Science and Technology Program of Guangdong Province

the Science and Technology Program of Guangzhou City

the Natural Science Foundation of Guangdong Province

the Science and Technology Development of Special Funding of Guangdong Province

the Livelihood Science and Technology Topics of Major Projects of Industrial-University Collaborative Innovation

the Science and Technology Planning Project of Guangdong Province

the National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-018-0580-2.pdf

Reference22 articles.

1. Sato T, Nishio H, Suzuki K. Sudden death during exercise in a juvenile with arrhythmogenic right ventricular cardiomyopathy and desmoglein-2 gene substitution: a case report. Leg Med (Tokyo). 2011;13(6):298–300.

2. Kaltman JR, Thompson PD, Lantos J, et al. Screening for sudden cardiac death in the young: report from a national heart, lung, and blood institute working group. Circulation. 2011;123(17):1911–8.

3. Quarta G, Muir A, Pantazis A, et al. Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. Circulation. 2011;123(23):2701–9.

4. den Haan AD, Tan BY, Zikusoka MN, et al. Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Cardiovasc Genet. 2009;2(5):428–35.

5. Corrado D, Leoni L, Link MS, et al. Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation. 2003;108(25):3084–91.

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