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. 2008 May;1(1):21-6.
doi: 10.1111/j.1752-8062.2008.00017.x.

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy

Ray E Hershberger  1 , Sharie B Parks, Jessica D Kushner, Duanxiang Li, Susan Ludwigsen, Petra Jakobs, Deirdre Nauman, Donna Burgess, Julie Partain, Michael Litt
Affiliations

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy

Ray E Hershberger et al. Clin Transl Sci. 2008 May.

Abstract

Background: More than 20 genes have been reported to cause idiopathic and familial dilated cardiomyopathy (IDC/FDC), but the frequency of genetic causation remains poorly understood.

Methods and results: Blood samples were collected and DNA prepared from 313 patients, 183 with FDC and 130 with IDC. Genomic DNA underwent bidirectional sequencing of six genes, and mutation carriers were followed up by evaluation of additional family members. We identified in 36 probands, 31 unique protein-altering variants (11.5% overall) that were not identified in 253 control subjects (506 chromosomes). These included 13 probands (4.2%) with 12 beta-myosin heavy chain (MYH7) mutations, nine probands (2.9%) with six different cardiac troponin T (TNNT2) mutations, eight probands (2.6%) carrying seven different cardiac sodium channel (SCN5A) mutations, three probands (1.0%) with three titin-cap or telethonin (TCAP) mutations, three probands (1.0%) with two LIM domain binding 3 (LDB3) mutations, and one proband (0.3%) with a muscle LIM protein (CSRP3) mutation. Four nucleotide changes did not segregate with phentoype and/or did not alter a conserved amino acid and were therefore considered unlikely to be disease-causing. Mutations in 11 probands were assessed as likely disease-causing, and in 21 probands were considered possibly disease-causing. These 32 probands included 14 of the 130 with IDC (10.8%) and 18 of 183 with FDC (9.8%)

Conclusions: Mutations of these six genes each account for a small fraction of the genetic cause of FDC/IDC. The frequency of possible or likely disease-causing mutations in these genes is similar for IDC and FDC.

Keywords: dilated cardiomyopathy; genetics.

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References

    1. Burkett EL, Hershberger RE. Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol. 2005; 45: 969–981. - PubMed
    1. Morita H, Seidman J, Seidman CE. Genetic causes of human heart failure. J Clin Invest. 2005; 115: 518–526. - PMC - PubMed
    1. Kushner JD, Nauman D, Burgess D, Ludwigsen S, Parks S, Pantely G, Burkett EL, Hershberger R. Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy. J Card Fail. 2006; 12: 422–429. - PubMed
    1. Crispell K, Wray A, Ni H, Nauman D, Hershberger R. Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice. J Am Coll Cardiol. 1999; 34: 837–847. - PubMed
    1. Fatkin D, MacRae C, Sasaki T, Wolff M, Porcu M, Frenneaux M, Atherton J, Vidaillet H, Spudich S, Girolami U, Seidman J, Seidman C. Missense mutations in the rod doma in of the lamin A/C gene as causes of dilated cardiomyopathy and conduction‐system disease. N Engl J Med. 1999; 341: 1715–1724. - PubMed

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