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

Journal of Applied Genetics

Volumn 44, Issue 1, 2003, Pages 103-109

  Moric, Ewa ^a   Mazurek, Urszula ^a   Polońska, Joanna ^a   Domal Kwiatkowska, Dorota ^a   Smolik, Sławomir ^a   Kozakiewicz, Krystyna ^a   Tendera, Michał ^a   Wilczok, Tadeusz ^a  

^a MEDICAL UNIVERSITY OF SILESIA   (Poland)

Author keywords

myosin heavy chain; Candidate genes; DGGE analysis; Familial hypertrophic cardiomyopathy; Mutations; SSCP analysis

Indexed keywords

AMINO ACID; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN BETA; UNCLASSIFIED DRUG; VENTRICULAR MYOSIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CODON; EXON; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; GENE MUTATION; GENE SEQUENCE; HUMAN; CHROMOSOME 14; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; POLAND; SINGLE STRAND CONFORMATION POLYMORPHISM;

CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CHROMOSOMES, HUMAN, PAIR 14; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; MYOSIN HEAVY CHAINS; POLAND; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; VENTRICULAR MYOSINS;

EID: 0041886507     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. AL-MAHDAVI S., CHAMBERLAIN S., CLELAND J., NIHOYANNOPOULOS P., GILLIGAN D., FRENCH J., CHOUDHURY L., WILLIAMSON R., OAKLEY C. (1993). Identification of a mutation in the β-cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy. Br. Heart. J. 69(2): 136-141.
2. BLAIR E., REDWOOD Ch., DE-JESUS-OLIVEIRA M., MOOLMAN-SMOOK J., BRINK P., CORFIELD V., OSTMAN-SMITH I., WATKINS H. (2002). Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ. Res. 90(3): 263-9.
3. CARRIER L., HENGSTENBERG C., BECKMANN J., GUICHENEY P., DUFOUR C., BERCOVICI J., DAUSSE E., BEREBBI BERTRAND I., WISNIEWSKI C., PULVENIS D. (1993). Mapping for a novel gene for famillial hypertrophic cardiomyopathy to chromosome 11. Nat. Genet. 4(3): 311-313.
4. HARADA H., KIMURA A., NISHI H., SASAZUKI T., TOSHIMA H. (1993). A missense mutation of cardiac b myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families. Biochem. Biophys. Res. Commun. 194(2): 791-797.
5. MARIAN A., SALEK L., LUTUCUTA S. (2001). Molecular genetics and pathogenesis of hypertrophic cardiomyopathy. Minerva Med. 92(6): 435-451.
6. MARIAN A., YU Q., MARES A., HILL R., ROBERTS R., PERRYMAN M. (1992). Detection of the new mutation in the betamyosin heavy chain gene in an individual with hypertrophic cardiomyopathy. J. Clin. Invest. 90(6): 2156-2165.
7. MARON B. (2002). Hypertrophic cardiomyopathy: a systematic review. JAMA. 287(10): 1308-1320.
8. MCKEOWN P., NEEDHAM E., MATTU R., JEFFERY S., KOZIELSKA E., WILCZOK T., TENDERA M., MCKENNA W. (1997). Lys766Asn mutation in exon 21 of the β-myosin heavy chain gene in a Polish family with hypertrophic cardiomyopathy. Eur. Heart. J. 18 (Abst. Suppl.): 407.
9. MOOLMAN J., BRINK P., CORFIELD V. (1995). Identification of a novel Ala797Thr mutation in exon 21 of β myosin heavy chain gene in hypertrophic cardiomyopathy. Hum. Mutat. 6(2): 197-198.
10. MOOLMAN-SMOOK J., DE-LANGE W., CORFIELD V., BRINK P. (2000). Expression of HCM-causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation. J. Med. Genet. 37(12): 951-956.
11. NISHI H., KIMURA A., HARADA H., KOGA Y., ADACHI K., MATSUYAMA K., KOYANAGI T., YASUNAGA S., IMAIZUMI T., TOSHIMA H., SASAZUKI T. (1995). A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. Circulation 91(12): 2911-2915.
12. RAYMENT I., HOLDEN H., SELLERS J., FANANAPAZIR L., EPSTEIN N. (1995). Structural intrepretation of the mutations in the β-cardiac myosin that have been implicated in famillial hypertrophic cardiomyopathy Proc. Natl. Acad. Sci. USA 92(9): 3864-3868.
13. SOLOMON S., GEISTERFER LOWRANCE A., VOSBERG H., HILLER G., JARCHO J., MORTON C., MC BRIDE W., MITCHELL A., BALE A., MCKENNA W., SEIDMAN J., SEIDMAN C. (1990). A locus for famillial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes CRIL436 and CRIL329 on chromosome 14 at q11q12. Am. J. Hum. Genet. 47(3): 389-394.
14. THIERFELDER L., MACRAE C., WATKINS H., TOMFOHRDE J., WILLIAMS M., MCKENNA W., BOHM K., NOESKE G., SCHLEPPER M., BOWCOCK A. (1993). A famillial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc. Natl. Acad. Sci. USA 90(13) 6270-6274.
15. TOWBIN J. (2000). Molecular genetics of hypertrophic cardiomyopathy. Curr. Cardiol. Rep. 2(2): 134-140.