A novel TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect

作者: Yi-Meng Zhou , Xiao-Yong Dai , Ri-Tai Huang , Song Xue , Ying-Jia Xu

DOI: 10.3892/MMR.2016.5609

关键词:

摘要: … TBX20 and NK2 homeobox 5, or between TBX20 and GATA binding protein 4. The observations of the current study expand the mutation spectrum of TBX20 … TBX20 sequence variation …

参考文章(61)
Mauro W. Costa, Guanglan Guo, Orit Wolstein, Molly Vale, Maria L. Castro, Libin Wang, Robyn Otway, Peter Riek, Natalie Cochrane, Milena Furtado, Christopher Semsarian, Robert G. Weintraub, Thomas Yeoh, Christopher Hayward, Anne Keogh, Peter Macdonald, Michael Feneley, Robert M. Graham, Jonathan G. Seidman, Christine E. Seidman, Nadia Rosenthal, Diane Fatkin, Richard P. Harvey, Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy. Circulation-cardiovascular Genetics. ,vol. 6, pp. 238- 247 ,(2013) , 10.1161/CIRCGENETICS.113.000057
Edwin P. Kirk, Margaret Sunde, Mauro W. Costa, Scott A. Rankin, Orit Wolstein, M. Leticia Castro, Tanya L. Butler, Changbaig Hyun, Guanglan Guo, Robyn Otway, Joel P. Mackay, Leigh B. Waddell, Andrew D. Cole, Christopher Hayward, Anne Keogh, Peter Macdonald, Lyn Griffiths, Diane Fatkin, Gary F. Sholler, Aaron M. Zorn, Michael P. Feneley, David S. Winlaw, Richard P. Harvey, Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy American Journal of Human Genetics. ,vol. 81, pp. 280- 291 ,(2007) , 10.1086/519530
Dong Wei, Han Bao, Xing-Yuan Liu, Ning Zhou, Qian Wang, Ruo-Gu Li, Ying-Jia Xu, Yi-Qing Yang, GATA5 loss-of-function mutations underlie tetralogy of fallot. International Journal of Medical Sciences. ,vol. 10, pp. 34- 42 ,(2013) , 10.7150/IJMS.5270
Toru Oka, Jian Xu, Jeffery D. Molkentin, Re-employment of developmental transcription factors in adult heart disease. Seminars in Cell & Developmental Biology. ,vol. 18, pp. 117- 131 ,(2007) , 10.1016/J.SEMCDB.2006.11.012
XIAN-LING ZHANG, NENG DAI, KAI TANG, YAN-QING CHEN, WEI CHEN, JUAN WANG, CUI-MEI ZHAO, FANG YUAN, XING-BIAO QIU, XIN-KAI QU, YI-QING YANG, YA-WEI XU, GATA5 loss-of-function mutation in familial dilated cardiomyopathy. International Journal of Molecular Medicine. ,vol. 35, pp. 763- 770 ,(2015) , 10.3892/IJMM.2014.2050
Pankaj B Agrawal, Christopher R Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, Marissa Viola, Lindsay C Swanson, Göknur Haliloğlu, Beril Talim, Kyle S Yau, Richard JN Allcock, Nigel G Laing, Mark A Perrella, Alan H Beggs, None, SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy American Journal of Human Genetics. ,vol. 95, pp. 218- 226 ,(2014) , 10.1016/J.AJHG.2014.07.004
Jennifer L. Perera, Nicole M. Johnson, Daniel P. Judge, Jane E. Crosson, Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia. Pediatric Cardiology. ,vol. 35, pp. 1206- 1212 ,(2014) , 10.1007/S00246-014-0917-3
Hong Yu, Jia-Hong Xu, Hao-Ming Song, Lan Zhao, Wen-Jun Xu, Juan Wang, Ruo-Gu Li, Lei Xu, Wei-Feng Jiang, Xing-Biao Qiu, Jin-Qi Jiang, Xin-Kai Qu, Xu Liu, Wei-Yi Fang, Jin-Fa Jiang, Yi-Qing Yang, Mutational spectrum of the NKX2-5 gene in patients with lone atrial fibrillation. International Journal of Medical Sciences. ,vol. 11, pp. 554- 563 ,(2014) , 10.7150/IJMS.8407
XIKE WANG, WEI JI, JIAN WANG, PENGJUN ZHAO, YING GUO, RANG XU, SUN CHEN, KUN SUN, Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects Molecular Medicine Reports. ,vol. 10, pp. 743- 748 ,(2014) , 10.3892/MMR.2014.2247
M. G. Posch, M. Gramlich, M. Sunde, K. R. Schmitt, S. H. Y. Lee, S. Richter, A. Kersten, A. Perrot, A. N. Panek, I. H. Al Khatib, G. Nemer, A. Megarbane, R. Dietz, B. Stiller, F. Berger, R. P. Harvey, C. Ozcelik, A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects Journal of Medical Genetics. ,vol. 47, pp. 230- 235 ,(2010) , 10.1136/JMG.2009.069997