Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy

Circulation

Volumn 94, Issue 12, 1996, Pages 3069-3073

  Forissier, Jean François ^a   Carrier, Lucie ^a   Farza, Hend ^a   Bonne, Gisèle ^a   Bercovici, Josiane ^a   Richard, Pascale ^a   Hainque, Bernard ^a   Townsend, Philip J ^f   Yacoub, Magdi H ^f   Fauré, Sabine ^e   Dubourg, Olivier ^b   Millaire, Alain ^c   Hagège, Albert A ^d   Desnos, Michel ^d   Komajda, Michel ^a   Schwartz, Ketty ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL AMBROISE PARÉ   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d Hopital Boucicaut   (France)

^e CNRS   (France)

^f IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

cardiomyopathy; genetics; heart diseases; hypertrophy

Indexed keywords

TROPONIN T;

ADULT; ARTICLE; CODON; ECHOCARDIOGRAPHY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; PEDIGREE; PENETRANCE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 8044244822     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.94.12.3069     Document Type: Article

References (19)

1. Schwartz K, Carrier L, Guicheney P, Komajda M. The molecular basis of cardiomyopathies. Circulation. 1995;91:532-540.
2. Watkins H, Seidman JG, Seidman CE. Familial hypertrophie cardiomyopathy: a genetic model of cardiac hypertrophy. Hum Mol Genet. 1995;4:1721-1727.
3. Marian AJ, Roberts R. Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation. 1995;92:1336-1347.
4. Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, Gautel M, Labeit S, James M, Beckman J, Weissenbach J, Vosberg HP, Fiszman M, Komajda M, Schwartz K. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet. 1995;11:438-440.
5. Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, Maron BJ, Seidman JG, Seidman CE. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet. 1995;11:434-437.
6. Dausse E, Komajda M, Dubourg O, Fetler L, Dufour C, Carrier L, Wisnewski C, Bercovici J, Hengstenberg C, Al-Mahdawi S, Isnard R, Hagege A, Bouhour JB, Desnos M, Beckmann JS, Weissenbach J, Schwartz K, Guicheney P. Familial hypertrophic cardiomyopathy: microsatellite haplotyping and identification of a hot-spot for muta tions in the β-myosin heavy chain gene. J Clin Invest. 1993;92: 2807-2813.
7. Consevage M, Salada GC, Baylen BG, Ladda RL, Rogan PK. A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy. Hum Mol Genet. 1994;3:1025-1026.
8. Moolman JC, Brink PA, Corfield VA. Identification of a new missense mutation at Arg403, a CpG mutation hot spot, in exon 13 of the β-myosin heavy chain gene in hypertrophic cardiomyopathy. Hum Mol Genet. 1993;2:1731-1732.
9. Greve G, Mares A, Bachinski L, Roberts R. A sporadic mutation in the β-myosin heavy chain gene transmits hypertrophic cardiomyopathy to the offspring of two generations. Circulation. 1993;88(suppl I):I-572. Abstract.
10. Thierfelder L, Watkins H, MacRae C, Limas R, McKenna W, Vosberg HP, Seidman JC, Seidman CE. α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994;77:701-712.
11. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994;7:246-339.
12. Mesnard L, Samson F, Espinasse I, Durand J, Neveux JY, Mercadier JJ. Molecular cloning and developmental expression of human cardiac troponin T. FEBS Lett. 1993;328:139-144.
13. Townsend P, Barton P, Yacoub M, Farza H. Molecular cloning of human cardiac troponin T isoforms: expression in developing and failing heart. J Mol Cell Cardiol. 1995;27:2223-2236.
14. Jin JP, Huang QQ, Yen HI, Lin JJC. Complete nucleotide sequence and structural organization of rat cardiac troponin T gene: a single gene generates embryonic and adult isoforms via developmentally regulated alternative splicing. J Mol Biol. 1992;227:1269-1276.
15. Townsend PJ, Farza H, MacGeoch C, Spurr NK, Wade R, Gahlmann R, Yacoub MH, Barton PJR. Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q. Genomics. 1994;21:311-316.
16. Mesnard L, Logeart D, Taviaux S, Diriong S, Mercadier JJ, Samson F. Human cardiac troponin T: cloning and expression of new isoforms in the normal and failing heart. Circ Res. 1995;76:687-692.
17. Watkins H, McKenna WJ, Thierfelder L, Spirito P, Matsumori A, Moravec CS, Seidman JG, Seidman CE. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med. 1995;332:1058-1064.
18. Barker D, Schafer M, White R. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell. 1984;36:131-138.
19. Cooper DN, Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet. 1988;78:151-155.