International Journal of Cardiology
Volume 145, Issue 3 , Pages 601-602 , 3 December 2010

Analysis of the Z-disc genes PDLIM3 and MYPN in Patients with Hypertrophic Cardiomyopathy

  • Richard D. Bagnall

      Affiliations

    • Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW, Australia
    • ,
  • Laura Yeates

      Affiliations

    • Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW, Australia
    • ,
  • Christopher Semsarian

      Affiliations

    • Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW, Australia
    • Faculty of Medicine, University of Sydney, Sydney, NSW, Australia
    • Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia
    • Corresponding Author InformationCorresponding author. Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Locked Bag 6, Newtown NSW 2042 Australia. Tel.: +61 2 9565 6195; fax: +61 2 9565 6101.

Received 14 July 2010 ,Accepted 6 August 2010.

References 

  1. Lind JM, Chiu C, Semsarian C. Genetic basis of hypertrophic cardiomyopathy. Expert Rev Cardiovasc Ther. 2006;4:927–934
  2. Maron BJ, Semsarian C. Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy. Eur Heart J. 2010;31:1551–1553
  3. Bagnall RD, Yeates L, Semsarian C. The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy. Int J Cardiol. 2009;Aug 8 [Epub ahead of print]
  4. Chiu C, Bagnall RD, Ingles J, et al. Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. J Am Coll Cardiol. 2010;55:1127–1135
  5. Bos JM, Ackerman MJ. Z-disc genes in hypertrophic cardiomyopathy: stretching the cardiomyopathies?. J Am Coll Cardiol. 2010;55:1136–1138
  6. Arimura T, Bos JM, Sato A, et al. Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2009;54:334–342
  7. Au Y, Atkinson RA, Guerrini R, et al. Solution structure of ZASP PDZ domain; implications for sarcomere ultrastructure and enigma family redundancy. Structure. 2004;12:611–622
  8. Geier C, Gehmlich K, Ehler E, et al. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Genet. 2008;17:2753–2765
  9. Theis JL, Bos JM, Bartleson VB, et al. Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2006;351:896–902
  10. Duboscq-Bidot L, Xu P, Charron P, et al. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 2008;77:118–125
  11. Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet. 2005;42:e59
  12. Tsoutsman T, Bagnall RD, Semsarian C. Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure. Clin Exp Pharmacol Physiol. 2008;35:1349–1357
  13. Coats AJ. Ethical authorship and publishing. Int J Cardiol. 2009;131:149–150

PII: S0167-5273(10)00579-6

doi: 10.1016/j.ijcard.2010.08.004

International Journal of Cardiology
Volume 145, Issue 3 , Pages 601-602 , 3 December 2010

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