PMID: 9541104Apr 16, 1998Paper

Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene

Journal of Medical Genetics
B YuR J Trent

Abstract

DNA studies in familial hypertrophic cardiomyopathy (FHC) have shown that it is caused by mutations in genes coding for proteins which make up the muscle sarcomere. The majority of mutations in the FHC genes result from missense changes, although one of the most recent genes to be identified (cardiac myosin binding protein C gene, MYBPC3) has predominantly DNA mutations which produce truncated proteins. Both dominant negative and haploinsufficiency models have been proposed to explain the molecular changes in FHC. This study describes two Australian families with FHC caused by different mutations in MYBPC3. The first produces a de novo Asn755Lys change in a cardiac specific domain of MYBPC3. The second is a Gln969X nonsense mutation which results in a truncated protein. Neither mutation has previously been found in the MYBPC3 gene. The consequences of DNA changes on the function of cardiac myosin binding protein C are discussed in relation to current molecular models for this disorder.

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Citations

Jul 9, 1999·Reviews of Physiology, Biochemistry and Pharmacology·P M BennettM Gautel
May 1, 1998·Trends in Cardiovascular Medicine·L CarrierK Schwartz
Mar 20, 2003·Cell Research·Man-Wei ChungChristopher Semsarian
Jul 21, 2009·Cardiovascular Research·Lucie CarrierThomas Eschenhagen
Apr 16, 1998·Journal of Medical Genetics·B YuR J Trent
Jun 9, 2000·Annual Review of Physiology·J Robbins
Oct 14, 1998·The Journal of Clinical Investigation·Q YangJ Robbins
Sep 11, 2001·Journal of Molecular and Cellular Cardiology·S Winegrad
Sep 11, 2001·Journal of Molecular and Cellular Cardiology·Q YangJ Robbins
Dec 8, 2004·Journal of the American College of Cardiology·Barry J MaronChristine E Seidman
Aug 13, 2011·Journal of the American College of Cardiology·Iacopo OlivottoFranco Cecchi
Jul 5, 2016·Heart, Lung & Circulation·Don R McTaggartJessica A Marathe
May 29, 1999·Circulation Research·S Winegrad
May 29, 2004·Circulation Research·Emily FlashmanHugh Watkins
Sep 19, 1998·Circulation Research·G BonneK Schwartz
Jul 17, 2019·Circulation Journal : Official Journal of the Japanese Circulation Society·Minh Thu Tran VuThuy Duong Ho Huynh
Nov 21, 2018·Pflügers Archiv : European journal of physiology·Amelia A GlazierSharlene M Day

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