caa a22 4500 606221522 CHVBK 20210128101129.0 cr unu---uuuuu 210128e20150301xx s 000 0 eng 10.1007/s00380-014-0503-x doi (NATIONALLICENCE)springer-10.1007/s00380-014-0503-x A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction [Elektronische Daten] [Tao Tian, Jizheng Wang, Hu Wang, Kai Sun, Yilu Wang, Lei Jia, Yubao Zou, Rutai Hui, Xianliang Zhou, Lei Song] Left ventricular non-compaction (LVNC) is genetically heterogeneous. It has been previously shown that LVNC is associated with defects in TAZ, DNTA, LDB3, YWHAE, MIB1, PRDM16, and sarcomeric genes. This study was aimed to investigate sarcomeric gene mutations in a Chinese population with LVNC. From 2004 to 2010, 57 unrelated Chinese patients with LVNC were recruited at Fuwai Hospital, Beijing, China. Detailed clinical evaluation was performed on the probands and available family members. DNA samples isolated from the peripheral blood of the index cases were screened for 10 sarcomeric genes, including MYH7, MYBPC3, MYL2, MYL3, MYH6, TNNC1, TNNT2, TNNI3, TPM1, and ACTC1. Seven heterozygous mutations (6 missense and 1 deletion) were identified in 7 (12%) of the patients. These mutations were distributed among 4 genes, 4 in MYH7, and 1 each in ACTC1, TNNT2, and TPM1. Six of the mutations were novel and another one was reported previously. All mutations affected conserved amino acid residues and were predicted to alter the structure of the proteins by in silico analysis. No significant difference was observed between mutation-positive and mutation-negative patients with respect to clinical characteristics at baseline and mortality during follow-up. In conclusion, our study indicates that sarcomeric gene mutations are uncommon causes of LVNC in Chinese patients and genetic background of the disease may be divergent among the different races. Springer Japan, 2014 Sarcomere nationallicence Gene mutation nationallicence Cardiomyopathy nationallicence Non-compaction nationallicence Tian Tao Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut Wang Jizheng Sino-German Laboratory for Molecular Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut Wang Hu Sino-German Laboratory for Molecular Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut Sun Kai Sino-German Laboratory for Molecular Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut Wang Yilu Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut Jia Lei Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut Zou Yubao Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut Hui Rutai Sino-German Laboratory for Molecular Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut Zhou Xianliang Hypertension Center, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut Song Lei Hypertension Center, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut Heart and Vessels Springer Japan 30/2(2015-03-01), 258-264 0910-8327 30:2<258 2015 30 380 https://doi.org/10.1007/s00380-014-0503-x text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00380-014-0503-x text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Tian Tao Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut NATIONALLICENCE 700 1- Wang Jizheng Sino-German Laboratory for Molecular Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut NATIONALLICENCE 700 1- Wang Hu Sino-German Laboratory for Molecular Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut NATIONALLICENCE 700 1- Sun Kai Sino-German Laboratory for Molecular Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut NATIONALLICENCE 700 1- Wang Yilu Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut NATIONALLICENCE 700 1- Jia Lei Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut NATIONALLICENCE 700 1- Zou Yubao Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut NATIONALLICENCE 700 1- Hui Rutai Sino-German Laboratory for Molecular Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut NATIONALLICENCE 700 1- Zhou Xianliang Hypertension Center, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut NATIONALLICENCE 700 1- Song Lei Hypertension Center, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 167 Beilishi Road, 100037, Beijing, People's Republic of China aut NATIONALLICENCE 773 0- Heart and Vessels Springer Japan 30/2(2015-03-01), 258-264 0910-8327 30:2<258 2015 30 380