title: Three novel mutations in exon 21 encoding beta-cardiac myosin heavy chain.
abstract: 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 alpha and beta-cardiac myosin heavy chains. In this study we demonstrate changes in exon 21, coding for beta-myosin heavy chain. We described 4 patients from different families with an unequivocal diagnosis of hypertrophic 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 symptoms.
authors.affiliation: Department of Molecular Biology, Biochemistry and Biopharmacy, Medical University of Silesia, ul. Narcyzów 1, 41-200 Sosnowiec, Poland. e.moric@poczta.clinika.pl
authors.forename: Ewa
authors.initials: E
authors.lastname: Moric
authors.forename: Urszula
authors.initials: U
authors.lastname: Mazurek
authors.forename: Joanna
authors.initials: J
authors.lastname: Połońska
authors.forename: Dorota
authors.initials: D
authors.lastname: Domal-Kwiatkowska
authors.forename: Sławomir
authors.initials: S
authors.lastname: Smolik
authors.forename: Krystyna
authors.initials: K
authors.lastname: Kozakiewicz
authors.forename: Michał
authors.initials: M
authors.lastname: Tendera
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Wilczok
mesh_terms: D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics* / Q000503:physiopathology; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D011044:Poland; D018807:Polymorphism, Single-Stranded Conformational; D024723:Ventricular Myosins / Q000235:genetics*
chemical_list: D024723:Ventricular Myosins; D018995:Myosin Heavy Chains