Three novel mutations in exon 21 encoding b-cardiac myosin heavy chain

• Authors: E. Moric , U. Mazurek , J. Polonska , D. Domal-Kwiatkowska , S. Smolik , K. Kozakiewicz , M. Tendera , T. Wilczok
• Languages of publication: EN

Abstracts

EN

Familial hypertrophic cardiomyopathy has a complex multigenic background. Previous work allowed to determine one of the gene loci responsible for this disease on chromosome 14 band q11-q12, and linked it to the a and b-cardiac myosin heavy chains. In this study we demonstrate changes in exon 21, coding for b-myosin heavy chain. We described 4 patients from different families with an unequivocal diagnosis of hypetrophic cardiomyopathy based on the clinical picture. Direct sequencing of exon 21 revealed the presence of 5 novel mutations. Two of the mutations in codons 771 and 781 revealed in our study did not result in any changes in amino acid sequence. The next three were as follows: in codon 782 (AGC > GAC) transition responsible for Ser?Asp substitution; in codon 779 (GAG > TAG) mutation that results in replacement of Glu?Stop; in codon 774 (GAG > GTG) which is expressed as substitution of Glu?Val. These mutations are located close to mutations identified and described in the literature, so they are likely to cause similar sumptoms.

Keywords

EN

B-MYOSIN HEAVY CHAIN; GENE; HYPERTROPHIC CARDIOMYOPATHY; MUTATION

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2003
• Volume: 44
• Issue: 1
• Pages: 103-109

Contributors

author

E. Moric

author

U. Mazurek

author

J. Polonska

author

D. Domal-Kwiatkowska

author

S. Smolik

author

K. Kozakiewicz

author

M. Tendera

author

T. Wilczok

• Document Type: SHORT COMMUNICA
• Publication order reference: E. Moric, Department of Molecular Biology, Biochemistry and Biopharmacy, Medical University of Silesia, ul. Narcyzow 1, 41-200 Sosnowiec, Poland