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PMID:15856146

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Citation

Perrot, A, Schmidt-Traub, H, Hoffmann, B, Prager, M, Bit-Avragim, N, Rudenko, RI, Usupbaeva, DA, Kabaeva, Z, Imanov, B, Mirrakhimov, MM, Dietz, R, Wycisk, A, Tendera, M, Gessner, R and Osterziel, KJ (2005) Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J. Mol. Med. 83:468-77

Abstract

Hypertrophic cardiomyopathy (HCM) is a frequent, autosomal-dominant cardiac disease and manifests predominantly as left ventricular hypertrophy. Mutations in the cardiac beta-myosin heavy chain gene (MYH7) are responsible for the disease in about 30% of cases where mutations were identified. We clinically evaluated a large group of 147 consecutive HCM patients from three cardiology centers in Germany, Poland, and Kyrgyzstan according to the same protocol. The DNA of the patients was systematically analyzed in the whole coding region of the MYH7 gene using PCR, single-strand conformation polymorphism analysis, and automated sequencing. Eleven different missense mutations (including seven novel ones) in 11 unrelated patients were identified, showing a mutation frequency of 7.5% in the study population. We further examined the families of five patients (three of German, one of Polish, and one of Kyrgyz origin) with 32 individuals in total. We observed a clear, age-dependent penetrance with onset of disease symptoms in the fourth decade of life. Genotype-phenotype correlations were different for each mutation, whereas the majority was associated with an intermediate/malign phenotype. In conclusion, we report a systematic molecular screening of the complete MYH7 gene in a large group of consecutive HCM patients, leading to a genetic diagnosis in 38 individuals. Information about the genotype in an individual from one family could be very useful for the clinician, especially when dealing with healthy relatives in doubt of their risk about developing HCM. The increasing application of genetic screening and the increasing knowledge about genotype-phenotype correlations will hopefully lead to an improved clinical management of HCM patients.

Links

PubMed Online version:10.1007/s00109-005-0635-7

Keywords

Adolescent; Adult; Aged; Amino Acid Sequence; Cardiac Myosins; Cardiomyopathy, Hypertrophic/epidemiology; Cardiomyopathy, Hypertrophic/genetics; Child; DNA Mutational Analysis; Female; Genotype; Germany/epidemiology; Humans; Kyrgyzstan/epidemiology; Male; Middle Aged; Molecular Sequence Data; Mutation, Missense; Myosin Heavy Chains/genetics; Pedigree; Poland/epidemiology; Prevalence; Prospective Studies; Risk Factors; Sequence Alignment

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:MYH7

involved_in

GO:0006936: muscle contraction

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:MYH7

involved_in

GO:0007512: adult heart development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:MYH7

involved_in

GO:0055010: ventricular cardiac muscle tissue morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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