Tackling the Achilles' heel of genetic testing

Science Translational Medicine

Volumn 7, Issue 270, 2015, Pages

  Watkins, Hugh ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN;

AUTOSOMAL DOMINANT DISORDER; CARDIOMYOPATHY; CHANNELOPATHY; CONGESTIVE CARDIOMYOPATHY; FALSE POSITIVE RESULT; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INCIDENTAL FINDING; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; PENETRANCE; SHORT SURVEY; TITIN GENE; ALLELE; GENETIC TRANSCRIPTION; GENETICS; HEART; MUTATION; PHYSIOLOGY;

ALLELES; CONNECTIN; HEART; HUMANS; MUTATION; TRANSCRIPTION, GENETIC;

EID: 84921047797     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.aaa4276     Document Type: Short Survey

References (10)

1. A. M. Roberts, J. S. Ware, D. S. Herman, S. Schafer, J. Baksi, A. G. Bick, R. J. Buchan, R. Walsh, S. John, S. Wilkinson, F. Mazzarotto, L. E. Felkin, S. Gong, J. A. L. MacArthur, F. Cunningham, J. Flannick, S. B. Gabriel, D. M. Altshuler, P. S. Macdonald, M. Heinig, A. M. Keogh, C. S. Hayward, N. R. Banner, D. J. Pennell, D. P. O'Regan, T. R. San, A. de Marvao, T. J. W. Dawes, A. Gulati, E. J. Birks, M. H. Yacoub, M. Radke, M. Gotthardt, J. G. Wilson, C. J. O'Donnell, S. K. Prasad, P. J. R. Barton, D. Fatkin, N. Hubner, J. G. Seidman, C. E. Seidman, S. A. Cook, Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci. Transl. Med. 7, 270ra6 (2015).
2. Exome Aggregation Consortium (ExAC), Cambridge, MA; http://exac.broadinstitute.org.
3. J. Flannick et al., Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat. Genet. 45, 1380-1385 (2013).
4. J. Hass et al., Atlas of the clinical genetics of human dilated cardiomyopathy. Eur. Heart J. 27 August 2014 ()10.1093/eurheartj/ehu301
5. P. M. Elliott et al., 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy. Eur. Heart J. 35, 2733-2779 (2014). http://eurheartj.oxfordjournals.org/content/ehj/35/39/2733.full.pdf.
6. D. S. Herman, L. Lam, M. R. Taylor, L. Wang, P. Teekakirikul, D. Christodoulou, L. Conner, S. R. DePalma, B. McDonough, E. Sparks, D. L. Teodorescu, A. L. Cirino, N. R. Banner, D. J. Pennell, S. Graw, M. Merlo, A. Di Lenarda, G. Sinagra, J. M. Bos, M. J. Ackerman, R. N. Mitchell, C. E. Murry, N. K. Lakdawala, C. Y. Ho, P. J. Barton, S. A. Cook, L. Mestroni, J. G. Seidman, C. E. Seidman, Truncations of titin causing dilated cardiomyopathy. N. Engl. J. Med. 366, 619-628 (2012).
7. H. Watkins, H. Ashrafian, C. Redwood, Inherited cardiomyopathies. N. Engl. J. Med. 364, 1643-1656 (2011).
8. C. Chauveau, C. G. Bonnemann, C. Julien, A. L. Kho, H. Marks, B. Talim, P. Maury, M. C. Arne-Bes, E. Uro-Coste, A. Alexandrovich, A. Vihola, S. Schafer, B. Kaufmann, L. Medne, N. Hübner, A. R. Foley, M. Santi, B. Udd, H. Topaloglu, S. A. Moore, M. Gotthardt, M. E. Samuels, M. Gautel, A. Ferreiro, Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum. Mol. Genet. 23, 980-991 (2014).
9. A. Evilä, A. Vihola, J. Sarparanta, O. Raheem, J. Palmio, S. Sandell, B. Eymard, I. Illa, R. Rojas-Garcia, K. Hankiewicz, L. Negrão, T. Löppönen, P. Nokelainen, M. Kärppä, S. Penttilä, M. Screen, T. Suominen, I. Richard, P. Hackman, B. Udd, Atypical phenotypes in titinopathies explained by second titin mutations. Ann. Neurol. 75, 230-240 (2014).
10. W. Guo, S. Schafer, M. L. Greaser, M. H. Radke, M. Liss, T. Govindarajan, H. Maatz, H. Schulz, S. Li, A. M. Parrish, V. Dauksaite, P. Vakeel, S. Klaassen, B. Gerull, L. Thierfelder, V. Regitz-Zagrosek, T. A. Hacker, K. W. Saupe, G. W. Dec, P. T. Ellinor, C. A. MacRae, B. Spallek, R. Fischer, A. Perrot, C. Özcelik, K. Saar, N. Hubner, M. Gotthardt, RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Nat. Med. 18, 766-773 (2012).