Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy

作者: Nadine Norton , Duanxiang Li , Evadnie Rampersaud , Ana Morales , Eden R Martin

DOI: 10.1161/CIRCGENETICS.111.000062

关键词:

摘要: … analysis and variant filtering across the exome sequences of 48 individuals affected with DCM from 17 families to identify genetic cause. Linkage analysis … We identified 6 TTN truncating …

参考文章(26)
Ralph Knöll, Masahiko Hoshijima, Hal M. Hoffman, Veronika Person, Ilka Lorenzen-Schmidt, Marie-Louise Bang, Takeharu Hayashi, Nobuyuki Shiga, Hideo Yasukawa, Wolfgang Schaper, William McKenna, Mitsuhiro Yokoyama, Nicholas J. Schork, Jeffrey H. Omens, Andrew D. McCulloch, Akinori Kimura, Carol C. Gregorio, Wolfgang Poller, Jutta Schaper, Heinz P. Schultheiss, Kenneth R. Chien, The Cardiac Mechanical Stretch Sensor Machinery Involves a Z Disc Complex that Is Defective in a Subset of Human Dilated Cardiomyopathy Cell. ,vol. 111, pp. 943- 955 ,(2002) , 10.1016/S0092-8674(02)01226-6
Wei Guo, Sheila J. Bharmal, Karla Esbona, Marion L. Greaser, Titin diversity--alternative splicing gone wild. BioMed Research International. ,vol. 2010, pp. 753675- 753675 ,(2010) , 10.1155/2010/753675
Emily L. Burkett, Ray E. Hershberger, Clinical and genetic issues in familial dilated cardiomyopathy Journal of the American College of Cardiology. ,vol. 45, pp. 969- 981 ,(2005) , 10.1016/J.JACC.2004.11.066
Jorge Gonzalez-Quintana, Libin Wang, Sean McGee, Jochen Reiser, Eden Martin, Deborah A. Nickerson, Ray E. Hershberger, Nadine Norton, Duanxiang Li, Mark J. Rieder, Jill D. Siegfried, Evadnie Rampersaud, Stephan Züchner, Steve Mangos, Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy American Journal of Human Genetics. ,vol. 88, pp. 273- 282 ,(2011) , 10.1016/J.AJHG.2011.01.016
Ray E. Hershberger, Jill D. Siegfried, Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy Journal of the American College of Cardiology. ,vol. 57, pp. 1641- 1649 ,(2011) , 10.1016/J.JACC.2011.01.015
Duanxiang Li, Ana Morales, Jorge Gonzalez-Quintana, Nadine Norton, Jill D. Siegfried, Mark Hofmeyer, Ray E. Hershberger, Identification of Novel Mutations in RBM20 in Patients with Dilated Cardiomyopathy Clinical and Translational Science. ,vol. 3, pp. 90- 97 ,(2010) , 10.1111/J.1752-8062.2010.00198.X
Amy E Roberts, Toshiyuki Araki, Kenneth D Swanson, Kate T Montgomery, Taryn A Schiripo, Victoria A Joshi, Li Li, Yosuf Yassin, Alex M Tamburino, Benjamin G Neel, Raju S Kucherlapati, Germline gain-of-function mutations in SOS1 cause Noonan syndrome Nature Genetics. ,vol. 39, pp. 70- 74 ,(2007) , 10.1038/NG1926
Sharie B. Parks, Jessica D. Kushner, Deirdre Nauman, Donna Burgess, Susan Ludwigsen, Amanda Peterson, Duanxiang Li, Petra Jakobs, Michael Litt, Charles B. Porter, Peter S. Rahko, Ray E. Hershberger, Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy American Heart Journal. ,vol. 156, pp. 161- 169 ,(2008) , 10.1016/J.AHJ.2008.01.026
Ray E Hershberger, Ana Morales, Jill D Siegfried, Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals Genetics in Medicine. ,vol. 12, pp. 655- 667 ,(2010) , 10.1097/GIM.0B013E3181F2481F
Neal K. Lakdawala, Birgit H. Funke, Samantha Baxter, Allison L. Cirino, Amy E. Roberts, Daniel P. Judge, Nicole Johnson, Nancy J. Mendelsohn, Chantal Morel, Melanie Care, Wendy K. Chung, Carolyn Jones, Apostolos Psychogios, Elizabeth Duffy, Heidi L. Rehm, Emily White, J.G. Seidman, Christine E. Seidman, Carolyn Y. Ho, Genetic Testing for Dilated Cardiomyopathy in Clinical Practice Journal of Cardiac Failure. ,vol. 18, pp. 296- 303 ,(2012) , 10.1016/J.CARDFAIL.2012.01.013