Abstract | BACKGROUND: METHODS AND RESULTS: Two 4-generation white families with autosomal dominant familial dilated cardiomyopathy and conduction system disease were found to have novel mutations in the rod segment of lamin A/C. In family A a missense mutation ( nucleotide G607A, amino acid E203K) was identified in 14 adult subjects; disease was manifest as progressive conduction disease in the fourth and fifth decades. Death was caused by heart failure. In family B a nonsense mutation ( nucleotide C673T, amino acid R225X) was identified in 10 adult subjects; disease was also manifest as progressive conduction disease but with earlier onset (third and fourth decades), ventricular dysrhythmias, left ventricular enlargement, and systolic dysfunction. Death was caused by heart failure and sudden cardiac death. Skeletal muscle disease was not observed in either family. CONCLUSIONS:
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Authors | P M Jakobs, E L Hanson, K A Crispell, W Toy, H Keegan, K Schilling, T B Icenogle, M Litt, R E Hershberger |
Journal | Journal of cardiac failure
(J Card Fail)
Vol. 7
Issue 3
Pg. 249-56
(Sep 2001)
ISSN: 1071-9164 [Print] United States |
PMID | 11561226
(Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Codon, Nonsense
- Lamin Type A
- Lamins
- Nuclear Proteins
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Topics |
- Adult
- Cardiomyopathy, Dilated
(genetics)
- Codon, Nonsense
- Female
- Genes, Dominant
- Heart Block
(genetics)
- Heart Conduction System
(physiopathology)
- Humans
- Lamin Type A
- Lamins
- Male
- Middle Aged
- Mutation, Missense
- Nuclear Proteins
(genetics)
- Pedigree
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