FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy

Author:

Qin Xianyu1,Li Ping2,Qu Hui-Qi3,Liu Yichuan3,Xia Yu1,Chen Shaoxian1,Yang Yongchao1,Huang Shufang3,Wen Pengju1,Zhou Xianwu1,Li Xiaofeng1,Wang Yonghua2,Tian Lifeng3,Hakonarson Hakon34,Wu Yueheng1,Zhuang Jian1

Affiliation:

1. Guangdong Cardiovascular Institute, Guangdong Provincial Key Laboratory of South China Structural Heart Disease, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences

2. Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences

3. Center for Applied Genomics, The Children's Hospital of Philadelphia

4. Department of Pediatrics and Division of Human Genetics, University of Pennsylvania

Publisher

International Heart Journal (Japanese Heart Journal)

Subject

Cardiology and Cardiovascular Medicine,General Medicine

Reference30 articles.

1. 1. Ingles J, Semsarian C. Family matters: outcomes of hypertrophic cardiomyopathy family screening. Circ Genom Precis Med 2018; 11: e002112.

2. 2. Biswas A, Das S, Kapoor M, et al. Familial hypertrophic cardiomyopathy - Identification of cause and risk stratification through exome sequencing. Gene 2018; 660: 151-6.

3. 3. Ko C, Arscott P, Concannon M, et al. Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup. Genet Med 2018; 20: 69-75.

4. 4. Elliott PM, Anastasakis A, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J Elliott: Task Force, PM, A. Anastasakis, M.A. Borger, M. Borggrefe, F. Cecchi, P. Charron, A.A. Hagege, A. Lafont, G. Limongelli, H. Mahrholdt, W.J. McKenna, J. Mogensen, P. Nihoyannopoulos, S. Nistri, P.G. Pieper, B. Pieske, C. Rapezzi, F.H. Rutten, C. Tillmanns, H. Watkins 2014; 35: 2733-79.

5. 5. Valdés-Mas R, Gutiérrez-Fernández A, Gómez J, et al. Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. Nat Commun 2014; 5: 5326.

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