Expression of a missense mutation in the messenger RNA for beta-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy.

M B Perryman; Q T Yu; A J Marian; A Mares; G Czernuszewicz; J Ifegwu; R Hill; R Roberts

doi:10.1172/JCI115848

Section of Cardiology, Baylor College of Medicine, Houston, Texas 77030.

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Published in Volume 90, Issue 1 on July 1, 1992
J Clin Invest. 1992;90(1):271–277. https://doi.org/10.1172/JCI115848.
© 1992 The American Society for Clinical Investigation

Published July 1, 1992 - Version history

We have determined that a missense mutation in exon 13 of the beta-myosin heavy chain (beta MHC) gene is expressed in the messenger RNA (mRNA) isolated from a right ventricular endomyocardial biopsy obtained from the proband of a family with hypertrophic cardiomyopathy. The mutation is the result of a substitution of an adenine for a guanine residue in one allele of the beta MHC gene and creates a second recognition site for the restriction endonuclease Ddel in exon 13. The mutation is inherited in a Mendelian fashion and co-segregates with hypertrophic cardiomyopathy in this family. Complementary DNAs synthesized from RNA isolated from the endomyocardial biopsy were cloned into a plasmid vector and sequenced to confirm the expression of both the normal and mutant allele in mRNA of myocardial tissue. This is the first report of the transcription of a mutant beta MHC gene allele into mRNA of the myocardium.

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Expression of a missense mutation in the messenger RNA for beta-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy.

M B Perryman, Q T Yu, A J Marian, A Mares Jr, G Czernuszewicz, J Ifegwu, R Hill, and R Roberts

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Expression of a missense mutation in the messenger RNA for beta-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy.

M B Perryman, Q T Yu, A J Marian, A Mares Jr, G Czernuszewicz, J Ifegwu, R Hill, and R Roberts

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