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

100%

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

88%

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.

Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome

75%

Bobkowski W., Sobieszczanska M., Turska-Kmiec A., Nowak A., Jagielski J., Gonerska M., Lebioda A., Siwinska A.

Journal of Applied Genetics

2007

vol. 48

issue 2

185-188

Familial hypertrophic cardiomyopathy (HCM) displays autosomal dominant inheritance with incomplete penetration of defective genes. Data concerning the familial occurrence of ventricular preexcitation, i.e. Wolff-Parkinson-White (WPW) syndrome, also indicate autosomal dominant inheritance. In the literature, only a gene mutation on chromosome 7q3 has been described in familial HCM coexisting with WPW syndrome to date. The present paper describes the case of a 7-year-old boy with HCM and coexisting WPW syndrome. On his chromosome 14, molecular diagnostics revealed a C 9123 mutation (arginine changed into cysteine in position 453) in exon 14 in a copy of the gene for beta-myosin heavy chain (MYH7). It is the first known case of mutation of the MYH7 gene in a child with both HCM and WPW. Since no linkage between MYH7 mutation and HCM with WPW syndrome has been reported to date, we cannot conclude whether the observed mutation is a common cause for both diseases, or this patient presents an incidental co-occurrence of HCM (caused by MYH7 mutation) and WPW syndrome.

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3 Journal of Applied Genetics

1 2007

1 2003

1 2000

2 Domal-Kwiatkowska D.

2 Kozakiewicz K.

2 Mazurek U.

2 Moric E.

2 Smolik S.

2 Tendera M.

2 Wilczok T.

1 Bobkowski W.

1 Domal-Kwiatkowska D.-K. D.

1 Glanowska G.

1 Glanowska G. G.

1 Gonerska M.

1 Jagielski J.

1 Kozakiewicz K. K.

1 Lebioda A.

1 Mazurek M. U.

1 Moric M. E.

1 Nowak A.

1 Nowalany-Kozielska E.

1 Nowalany-Kozielska N.-K. E.

1 Polonska J.

1 Siwinska A.

1 Sobieszczanska M.

1 Tendera T. M.

1 Turska-Kmiec A.

1 Wilczok W. T.

1 Wodniecki J.

1 Wodniecki W. J.

Search results

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

Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome