Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy

Circulation Journal

Volumn 73, Issue 1, 2009, Pages 158-161

  Arimura, Takuro ^a   Hayashi, Yukiko K ^b   Murakami, Terumi ^b   Oya, Yasushi ^c   Funabe, Sayaka ^d   Arikawa Hirasawa, Eri ^d   Hattori, Nobutaka ^d   Nishino, Ichizo ^b   Kimura, Akinori ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^d JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Cardiomyopathy; Genes; Genetics; Muscles

Indexed keywords

CREATINE KINASE MB; FUKUTIN;

ABNORMALLY HIGH SUBSTRATE CONCENTRATION IN BLOOD; ADULT; ARTICLE; BRAIN DISEASE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DISEASE MARKER; FAMILIAL DISEASE; FEMALE; GENE INSERTION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; BASE SEQUENCE; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC; CASE-CONTROL STUDIES; CREATINE KINASE; HETEROZYGOTE; HUMANS; JAPAN; MEMBRANE PROTEINS; MUSCULAR DYSTROPHIES; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE;

EID: 58749112531     PISSN: 13469843     EISSN: 13474820     Source Type: Journal    
DOI: 10.1253/circj.CJ-08-0722     Document Type: Article

References (22)

1. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al. Contemporary definitions and classification of the cardiomyopathies: An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006; 113: 1807-1816.
2. Michels VV, Moll PP, Miller FA, Tajik AJ, Chu JS, Driscoll DJ, et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med 1992; 326: 77-82.
3. Kimura A. Molecular etiology and pathogenesis of hereditary cardiomyopathy. Circ J 2008; 72(Suppl): A-38-A-48.
4. Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A, et al. Structural analysis of the titin gene in hypertrophic cardiomyopathy: Identification of a novel disease gene. Biochem Biophys Res Commun 1999; 262: 411-417.
5. Itoh-Satoh M, Hayashi T, Nishi H, Koga Y, Arimura T, Koyanagi T, et al. Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem Biophys Res Commun 2002; 291: 385-393.
6. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002; 71: 492-500.
7. Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, et al. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol 2004; 44: 2192-2201.
8. Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nature Genet 2000; 24: 163-166.
9. McNally E, Allikian M, Wheeler MT, Mislow JM, Heydemann A. Cytoskeletal defects in cardiomyopathy. J Mol Cell Cardiol 2003; 35: 231-241.
10. Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type-clinical, genetic and pathological considerations. Brain Dev 1981; 3: 1-29.
11. Kondo-Iida E, Saito K, Tanaka H, Tsuji S, Ishihara T, Osawa M, et al. Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. Hum Genet 1997; 99: 427-432.
12. Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998; 394: 388-392.
13. Kondo-Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, Koide H, et al. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet 1999; 8: 2303-2309.
14. Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, et al. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol 2006; 60: 597-602.
15. Arimura T, Hayashi T, Terada H, Lee SY, Zhou Q, Takahashi M, et al. A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J Biol Chem 2004; 279: 6746-6752.
16. Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N. A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. Am J Med Genet A 2004; 127: 54-57.
17. Watanabe M, Kobayashi K, Jin F, Park KS, Yamada T, Tokunaga K, et al. Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations. Am J Med Genet A 2005; 138: 344-348.
18. Silan F, Yoshioka M, Kobayashi K, Simsek E, Tunc M, Alper M, et al. A new mutation of the fukutin gene in a non-Japanese patient. Ann Neurol 2003; 53: 392-396.
19. Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol 2006; 60: 603-610.
20. Lin YC, Murakami T, Hayashi YK, Nishino I, Nonaka I, Yuo CY, et al. A novel FKRP gene mutation in a Taiwanese patient with limbgirdle muscular dystrophy 2I. Brain Dev 2007; 29: 234-238.
21. Mirabella M, Servidei S, Manfredi G, Ricci E, Frustaci A, Bertini E, et al. Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 1993; 43: 2342-2345.
22. Feng J, Yan J, Buzin CH, Towbin JA, Sommer SS. Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. Mol Genet Metab 2002; 77: 119-126.