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The KVLQT1 gene is not a common target for mutations in patients with various heart pathologies

100%

Moric E., Herbert E., Mazurek U., Samelska J., Cholewa K., Trusz-Gluza M., Wilczok T.

Journal of Applied Genetics

2002

vol. 43

issue 2

245-254

The long QT syndrome (LQTS) is a disorder of ventricular repolarization that exposes affected individuals to cardiac arrhythmias and sudden death. The first gene for LQTS has been mapped to chromosome 11 p.15.5 by genome-wide linkage analysis. This gene, originally named KVLQT1 (and later KCNQ1), is a novel potassium channel gene. Mutations in the human KVLQT1 gene, encoding the a-subunit of the KVLQT1 channel, cause the long QT syndrome. In this work, we analysed the sequence of six KVLQT1 exons in patients with various heart pathologies. We describe 6 different mSSCP patterns with no disease-related SSCP conformers in any sample. Direct sequencing of exons 2 to 7 confirmed the absence of mutations. This suggests that the analysed region of the KVLQT1 gene is not commonly involved in pathogenesis of the long QT syndrome.

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

84%

Moric E., Mazurek U., Polonska J., Domal-Kwiatkowska D., Smolik S., Kozakiewicz K., Tendera M., Wilczok T.

Journal of Applied Genetics

2003

vol. 44

issue 1

103-109

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.

Usefulness of microsatellite markers in identification of family members carrying a mutation of the b-myosin heavy chain gene in families with hypertrophic cardiomyopathy

60%

Smolik S., Domal-Kwiatkowska D.-K. D., Domal-Kwiatkowska D., Mazurek M. U., Mazurek U., Moric M. E., Moric E., Nowalany-Kozielska N.-K. E., Nowalany-Kozielska E., Glanowska G. G., Glanowska G., Kozakiewicz K. K., Kozakiewicz K., Wodniecki W. J., Wodniecki J., Tendera T. M., Tendera M., Wilczok W. T., Wilczok T.

Journal of Applied Genetics

2000

vol. 41

issue 3

199-208

Familial hypertrophic cardiomyopathy (FHC) is characterised by autosomal dominant transmission, left ventricular hypertrophy and myocardial disarray. Genetic assessment is of special importance in this disease. Missense mutations of the gene coding for the b-myosin heavy chain (bMHC) have been identified as statistically the most important cause of the disease. Identification of specific mutations may be difficult, thus a simpler method of disease carrier identification is needed. We performed haplotype analysis of six Polish families (47 individuals) with three microsatellite markers located at the bMHC locus. Linkage of the disease locus to the bMHC gene was excluded in 4 out of the 6 families analysed. In 2 families particular haplotypes were coinherited with the disease phenotype. Microsatellite markers allowed identification of 2 carriers of the disease gene in these families among children of the patients.

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3 Journal of Applied Genetics

1 2003

1 2002

1 2000

3 Mazurek U.

3 Moric E.

3 Wilczok T.

2 Domal-Kwiatkowska D.

2 Kozakiewicz K.

2 Smolik S.

2 Tendera M.

1 Cholewa K.

1 Domal-Kwiatkowska D.-K. D.

1 Glanowska G.

1 Glanowska G. G.

1 Herbert E.

1 Kozakiewicz K. K.

1 Mazurek M. U.

1 Moric M. E.

1 Nowalany-Kozielska E.

1 Nowalany-Kozielska N.-K. E.

1 Polonska J.

1 Samelska J.

1 Tendera T. M.

1 Trusz-Gluza M.

1 Wilczok W. T.

1 Wodniecki J.

1 Wodniecki W. J.

Search results

The KVLQT1 gene is not a common target for mutations in patients with various heart pathologies

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

Usefulness of microsatellite markers in identification of family members carrying a mutation of the b-myosin heavy chain gene in families with hypertrophic cardiomyopathy