BACKGROUND: Some patients with dilated cardiomyopathy (DCM) have mutations of the genes that encode sarcomeric or cytoskeletal proteins of cardiomyocytes, but the prevalence of these mutations in Japan remains unclear. METHODS AND RESULTS: A group of 99 unrelated adult patients with DCM (familial n=27, sporadic n=72) were screened for the following genes: cardiac beta-myosin heavy chain, cardiac myosin-binding protein C (MYBPC3), regulatory and essential myosin light chains, alpha cardiac actin, alpha tropomyosin, cardiac troponin T, cardiac troponin I, cardiac troponin C, dystrophin, and lamin A/C. A mutation (R820Q) in MYBPC3 was found in an aged patient. In addition, dystrophin mutations were identified in 3 male patients (2 with exon 45-48 deletion and 1 with exon 48-52 deletion). The prevalence of dystrophin mutations in male patients with DCM was 4.4% (3 of 68). No mutations involving amino acid changes were identified in the other genes. CONCLUSIONS: Although cases of adult patients with DCM caused by mutations of the genes encoding sarcomeric or cytoskeletal proteins of cardiomyocytes are infrequent in Japan, it may be advisable to screen older DCM patients for MYBPC3 mutations, and male patients with familial DCM for dystrophin mutations.
BACKGROUND: Some patients with dilated cardiomyopathy (DCM) have mutations of the genes that encode sarcomeric or cytoskeletal proteins of cardiomyocytes, but the prevalence of these mutations in Japan remains unclear. METHODS AND RESULTS: A group of 99 unrelated adult patients with DCM (familial n=27, sporadic n=72) were screened for the following genes: cardiac beta-myosin heavy chain, cardiac myosin-binding protein C (MYBPC3), regulatory and essential myosin light chains, alpha cardiac actin, alpha tropomyosin, cardiac troponin T, cardiac troponin I, cardiac troponin C, dystrophin, and lamin A/C. A mutation (R820Q) in MYBPC3 was found in an aged patient. In addition, dystrophin mutations were identified in 3 male patients (2 with exon 45-48 deletion and 1 with exon 48-52 deletion). The prevalence of dystrophin mutations in male patients with DCM was 4.4% (3 of 68). No mutations involving amino acid changes were identified in the other genes. CONCLUSIONS: Although cases of adult patients with DCM caused by mutations of the genes encoding sarcomeric or cytoskeletal proteins of cardiomyocytes are infrequent in Japan, it may be advisable to screen older DCMpatients for MYBPC3 mutations, and male patients with familial DCM for dystrophin mutations.
Authors: E Otten; R H Lekanne Dit Deprez; M M Weiss; M van Slegtenhorst; M Joosten; J J van der Smagt; N de Jonge; W S Kerstjens-Frederikse; M T R Roofthooft; A H M M Balk; M P van den Berg; J S Ruiter; J P van Tintelen Journal: Neth Heart J Date: 2010-10 Impact factor: 2.380
Authors: Neal K Lakdawala; Birgit H Funke; Samantha Baxter; Allison L Cirino; Amy E Roberts; Daniel P Judge; Nicole Johnson; Nancy J Mendelsohn; Chantal Morel; Melanie Care; Wendy K Chung; Carolyn Jones; Apostolos Psychogios; Elizabeth Duffy; Heidi L Rehm; Emily White; J G Seidman; Christine E Seidman; Carolyn Y Ho Journal: J Card Fail Date: 2012-02-15 Impact factor: 5.712
Authors: Elham Kayvanpour; Farbod Sedaghat-Hamedani; Ali Amr; Alan Lai; Jan Haas; Daniel B Holzer; Karen S Frese; Andreas Keller; Katrin Jensen; Hugo A Katus; Benjamin Meder Journal: Clin Res Cardiol Date: 2016-08-30 Impact factor: 5.460
Authors: Rebekah S Zimmerman; Stephanie Cox; Neal K Lakdawala; Allison Cirino; Debora Mancini-DiNardo; Eugene Clark; Annette Leon; Elizabeth Duffy; Emily White; Samantha Baxter; Manal Alaamery; Lisa Farwell; Scott Weiss; Christine E Seidman; Jonathan G Seidman; Carolyn Y Ho; Heidi L Rehm; Birgit H Funke Journal: Genet Med Date: 2010-05 Impact factor: 8.822