Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy

Molecular Genetics and Metabolism

Volumn 77, Issue 1-2, 2002, Pages 119-126

  Feng, Jinong ^a   Yan, Jin ^a   Buzin, Carolyn H ^a   Towbin, Jeffrey A ^b   Sommer, Steve S ^a  

^a CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Dilated cardiomyopathy; DOVAM S; Dystrophin gene; Mutation detection

Indexed keywords

ACTIN; AMINO ACID; CREATINE KINASE; DYSTROPHIN; GENOMIC DNA; ISOPROTEIN; RNA; CREATINE KINASE MM; ISOENZYME;

ADOLESCENT; ADULT; ARTICLE; BINDING SITE; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DRUG EFFICACY; DRUG WITHDRAWAL; EPIDEMIC; EXON; GENE SEQUENCE; GENETIC CODE; GENETIC CONSERVATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC SCREENING; GENOME ANALYSIS; HEART DILATATION; HUMAN; MALE; MISSENSE MUTATION; MOUSE; MYOPATHY; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; RAT; RNA SPLICING; SKELETAL MUSCLE; BLOOD; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; DUCHENNE MUSCULAR DYSTROPHY; GENETIC LINKAGE; GENETICS; GENOTYPE; MOSAICISM; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; X CHROMOSOME;

ADOLESCENT; BASE SEQUENCE; CARDIOMYOPATHY, DILATED; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; CREATINE KINASE; CREATINE KINASE, MM FORM; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; GENOTYPE; HUMANS; ISOENZYMES; LINKAGE (GENETICS); MALE; MOSAICISM; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 0036396662     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00153-1     Document Type: Article

References (34)

1. N.E. Bowles, K.R. Bowles, J.A. Towbin, The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy, Herz 25 (2000) 168-175.
2. R.H. Hunsaker, P.K. Fulkerson, F.J. Barry, R.P. Lewis, C.V. Leier, D.V. Unverferth, Cardiac function in Duchenne's muscular dystrophy. Results of 10-year follow-up study and noninvasive tests, Am. J. Med. 73 (1982) 235-238.
3. J.K. Perlo., A.C. de Leon Jr., D. O'Doherty, The cardiomyopathy of progressive muscular dystrophy, Circulation 33 (1966) 625-648.
4. F. Muntoni, M. Cau, A. Ganau, R. Congiu, G. Arvedi, A. Mateddu, M.G. Marrosu, C. Cianchetti, G. Realdi, A. Cao, Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy, N. Engl. J. Med. 329 (1993) 921-925.
5. A.H. Beggs, E.P. Hoffman, J.R. Snyder, K. Arahata, L. Specht, F. Shapiro, C. Angelini, H. Sugita, L.M. Kunkel, Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies, Am. J. Hum. Genet. 49 (1991) 54-67.
6. R. Gold, W. Kress, B. Meurers, G. Meng, H. Reichmann, C.R. Muller, Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis, Muscle Nerve 15 (1992) 214-218.
7. J.A. Towbin, J.F. Hejtmancik, P. Brink, B. Gelb, X.M. Zhu, J.S. Chamberlain, E.R. McCabe, M. Swift, X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus, Circulation 87 (1993) 1854-1865.
8. J. Milasin, F. Muntoni, G.M. Severini, L. Bartoloni, M. Vatta, M. Krajinovic, A. Mateddu, C. Angelini, F. Camerini, A. Falaschi, L. Mestroni, M. Giacca, A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy, Hum. Mol. Genet. 5 (1996) 73-79.
9. F. Muntoni, L. Wilson, G. Marrosu, M.G. Marrosu, C. Cianchetti, L. Mestroni, A. Ganau, V. Dubowitz, C. Sewry, A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart, J. Clin. Invest. 96 (1995) 693-699.
10. F. Muntoni, M.A. Melis, A. Ganau, V. Dubowitz, Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy, Am. J. Hum. Genet. 56 (1995) 151-157.
11. K. Yoshida, A. Nakamura, M. Yazaki, S.-I. Ikeda, S. Takada, Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy, Hum. Mol. Genet 7 (1998) 1129-1132.
12. A. Ferlini, N. Galie, L. Merlini, C. Sewry, A. Branzi, F. Muntoni, A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy, Am. J. Hum. Genet. 63 (1998) 436-446.
13. F. Muntoni, A. Di Lenarda, M. Porcu, G. Sinagra, A. Mateddu, G. Marrosu, A. Ferlini, M. Cau, J. Milasin, M.A. Melis, M.G. Marrosu, C. Cianchetti, A. Sanna, A. Falaschi, F. Camerini, M. Giacca, L. Mestroni, Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy, Heart 78 (1997) 608-612.
14. R. Ortiz-Lopez, H. Li, J. Su, V. Goytia, J.A. Towbin, Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy [see comments], Circulation 95 (1997) 2434-2440.
15. E. Arbustini, M. Diegoli, P. Morbini, B. Dal Bello, N. Banchieri, A. Pilotto, F. Magani, M. Grasso, J. Narula, A. Gavazzi, M. Vigano, L. Tavazzi, Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy, J. Am. Coll. Cardiol. 35 (2000) 1760-1768.
16. J.R. Mendell, C.H. Buzin, J. Feng, J. Yan, C. Serrano, B.S. Sangani, T.W. Prior, S.S. Sommer, Diagnosis of Duchenne dystrophy by enhanced detection of small mutations, Neurology 57 (2001) 645-650.
17. C.H. Buzin, C.Y. Wen, V.Q. Nguyen, G. Nozari, A. Mengos, X. Li, J.S. Chen, Q. Liu, R.A. Gatti, F.K. Fujimura, S.S. Sommer, Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: evidence that the scanning conditions are generic, Biotechniques 28 (2000) 746-753.
18. Q. Liu, J. Feng, C. Buzin, C. Wen, G. Nozari, A. Mengos, V. Nguyen, J. Liu, F. Crawford, F.K. Fujimura, S.S. Sommer, Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity, Biotechniques 26 (1999) 932-942.
19. R.P. Ketterling, E. Vielhaber, X. Li, J.D. Drost, D.J. Schaid, C.K. Kasper, J.A. Phillips III, M.A. Koerper, H. Kim, C. Sexauer, R. Gruppo, R. Ambriz, R. Paredes, S.S. Sommer, Germline origins in the human F9 gene: frequent G:C → A:T mosaicism and increased mutations with advanced maternal age, Hum Genet 105 (1999) 629-640.
20. S.J. Winder, T.J. Gibson, J. Kendrick-Jones, Dystrophin and utrophin: the missing links!, FEBS Lett. 369 (1995) 27-33.
21. S.A.M. Taylor, K.V. Deugau, D.P. Lillicrap, Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency), Proc. Natl. Acad. Sci. USA 88 (1991) 39-42.
22. C.D.K. Bottema, R.P. Ketterling, S. Ii, H.-S. Yoon, J.A. Phillips III, S.S. Sommer, Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements, Am. J. Hum. Genet. 49 (1991) 820-838.
23. C.F. Bador., N.F. Berkely, S.F. Mehrotra, J.W.F. Talhouk, R.E.F. Rhoads, K.U. Knowlton, Enteroviral protease 2A directly cleaves dystrophin and is inhibited by a dystrophin-based substrate analogue, J. Biol. Chem. 275 (2000) 11191-11197.
24. M.H.L. Green, J.P. O'Neill, J. Cole, Suggestions concerning the relationship between mutant frequency and mutation rate at the hprt locus in human peripheral T-lymphocytes, Mutat. Res. 334 (1995) 323-339.
25. M. Krawczak, D.N. Cooper, Single base-pair substitutions in pathology and evolution: two sides to the same coin, Hum. Mutat. 8 (1996) 23-31.
26. T. Soussi, C. Caron de Fromentel, P. May, Structural aspects of the p53 protein in relation to gene evolution, Oncogene 5 (1990) 945-952.
27. B.G. Weinshenker, S.S. Sommer, VAPSE-based analysis: a two-phased candidate gene approach for elucidating genetic predisposition to complex disorders, Mutat. Res. Genomics 458 (2000) 7-17.
28. J.A. Cohn, K.J. Friedman, P.G. Noone, M.R. Knowles, L.M. Silverman, P.S. Jowell, Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis [see comments], N. Engl. J. Med. 339 (1998) 653-658.
29. N. Sharer, M. Schwarz, G. Malone, A. Howarth, J. Painter, M. Super, J. Braganza, Mutations of the cystic fibrosis gene in patients with chronic pancreatitis [see comments], N. Engl. J. Med. 339 (1998) 645-652.
30. M. Claustres, C. Guittard, D. Bozon, F. Chevalier, C. Verlingue, C. Ferec, E. Girodon, C. Cazeneuve, T. Bienvenu, G. Lalau, V. Dumur, D. Feldmann, E. Bieth, M. Blayau, C. Clavel, I. Creveaux, M.C. Malinge, N. Monnier, P. Malzac, H. Mittre, J.C. Chomel, J.P. Bonnefont, A. Iron, M. Chery, M.D. Georges, Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France, Hum. Mutat. 16 (2000) 143-156.
31. I. Vorechovsky, L. Luo, M.J. Dyer, D. Catovsky, P.L. Amlot, J.C. Yaxley, L. Foroni, L. Hammarstrom, A.D. Webster, M.A. Yuille, Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia, Nat. Genet. 17 (1997) 96-99.
32. T. Stankovic, A.M. Kidd, A. Sutcliffe, G.M. McGuire, P. Robinson, P. Weber, T. Bedenham, A.R. Bradwell, D.F. Easton, G.G. Lennox, N. Haites, P.J. Byrd, A.M. Taylor, ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer, Am. J. Hum. Genet. 62 (1998) 334-345.
33. F. Bullrich, D. Rasio, S. Kitada, P. Starostik, T. Kipps, M. Keating, R.A. Aldape, ATM mutations in B-cell chronic lymphocytic leukemia, Cancer Res. 59 (1999) 24-27.
34. C. Schaffner, S. Stilgenbauer, G.A. Rappold, H. Dohner, P. Lichter, Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia, Blood 94 (1999) 748-753.