The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy

International Journal of Cardiology

Volumn 145, Issue 1, 2010, Pages 150-153

  Bagnall, Richard D ^a   Yeates, Laura ^a   Semsarian, Christopher ^a,b,c  

^a CENTENARY INSTITUTE   (Australia)

^b University of Sydney   (Australia)

^c ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

Duplications; Gene deletions; Hypertrophic cardiomyopathy

Indexed keywords

MYOSIN BINDING PROTEIN C; TROPONIN T;

ADOLESCENT; ADULT; AGED; CONTROLLED STUDY; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LETTER; MAJOR CLINICAL STUDY; MYBPC3 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TNNT2 GENE;

EID: 78049480714     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2009.07.009     Document Type: Article

References (12)

1. J.M. Lind, C. Chiu, and C. Semsarian Genetic basis of hypertrophic cardiomyopathy Expert Rev Cardiovasc Ther 4 2006 927 934
2. P.S. Andersen, O. Havndrup, and L. Hougs Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives Hum Mutat. 30 2009 363 370
3. I. Olivotto, F. Girolami, and M.J. Ackerman Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy Mayo Clin Proc 83 2008 630 638
4. J. Ingles, A. Doolan, C. Chiu, J. Seidman, C. Seidman, and C. Semsarian Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling J Med Genet 42 2005 e59
5. S. Fokstuen, R. Lyle, and A. Munoz A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy Hum Mutat 29 2008 879 885
6. J.T. Den Dunnen, P.M. Grootscholten, and E. Bakker Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications Am J Hum Genet 45 1989 835 847
7. N.V. Morgan, A.J. Tipping, H. Joenje, and C.G. Mathew High frequency of large intragenic deletions in the Fanconi anemia group A gene Am J Hum Genet 65 1999 1330 1341
8. J.P. Schouten, C.J. McElgunn, R. Waaijer, D. Zwijnenburg, F. Diepvens, and G. Pals Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification Nucleic Acids Res 30 2002 e57
9. C. Chiu, M. Tebo, and J. Ingles Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy J Mol Cell Cardiol 43 2007 337 343
10. T.A. Kunkel Misalignment-mediated DNA synthesis errors Biochemistry 29 1990 8003 8011
11. A.J. Marian, Q.T. Yu, A. Mares Jr., R. Hill, R. Roberts, and M.B. Perryman Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy J Clin Invest 90 1992 2156 2165
12. A.J. Coats Ethical authorship and publishing Int J Cardiol 131 2009 149 150