Chinese Medical Sciences Journal ›› 2016, Vol. 31 ›› Issue (1): 1-7.doi: 10.1016/S1001-9294(16)30015-3

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Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family

Yan-ping Ruan1, Chao-xia Lu2, Xiao-yi Zhao1, Rui-juan Liang1, Hui Lian1, Michael Routledge3, Wei Wu1, Xue Zhang2, *, Zhong-jie Fan1, *   

  1. 1Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;
    2McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100005, China;
    3Leeds Institute of Cardiovascular & Metabolic Medicine, University of Leeds, Leeds LS2 9JZ, UK
  • Received:2015-08-18 Published:2016-03-20 Online:2016-03-20
  • Contact: Zhong-jie Fan, Tel: 86-10-69155086, E-mail:, Xue Zhang, E-mail:

Objective To identify the pathogenic variant responsible for restrictive cardiomyopathy (RCM) in a Chinese family.Methods Next generation sequencing was used for detecting the mutation and Results verified by sequencing. We used restriction enzyme digestion to test the mutation in the family members and 200 unrelated normal subjects without any cardiac inherited diseases when the mutation was identified.Results Five individuals died from cardiac diseases, two of whom suffered from sudden cardiac death. Two individuals have suffered from chronic cardiac disorders. Mutation analysis revealed a novel missense mutation in exon 7 of troponin I type 3 (TNNI3), resulting in substitution of serine (S) with proline (P) at amino acid position 150, which cosegregated with the disease in the family, which is predicted to be probably damaging using PolyPhen-2. The mutation was not detected in the 200 unrelated subjects we tested.Conclusion Using next generation sequencing, which has very recently been shown to be successful in identifying novel causative mutations of rare Mendelian disorders, we found a novel mutation of TNNI3 in a Chinese family with RCM.

Key words: restrictive cardiomyopathy, autosomal dominant, troponin I

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