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| Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy |
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| Author(s): Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 71 Issue: 5 Pages: 1200-1206 Published: NOV 2002 |
| Times Cited: 164 References: 35 |
| Abstract: Arrhythmogenic right ventricular cardiomyopathy (ARVD/C) is a genetically heterogeneous disease characterized by progressive degeneration of the right ventricular myocardium and increased risk of sudden death. Here, we report on a genome scan in one Italian family in which the disease appeared unlinked to any of the six different ARVD loci reported so far; we identify a mutation (S299R) in exon 7 of desmoplakin (DSP), which modifies a putative phosphorylation site in the N-terminal domain binding plakoglobin. It is interesting that a nonsense DSP mutation was reported elsewhere in the literature, inherited as a recessive trait and causing a biventricular dilative cardiomyopathy associated with palmoplantar keratoderma and woolly hairs. Therefore, different DSP mutations might produce different clinical phenotypes, with different modes of inheritance. |
| Document Type: Article |
| Language: English |
| Reprint Address: Danieli, GA (reprint author), Univ Padua, Dept Biol, I-35131 Padua, Italy |
Addresses:
1. Univ Padua, Dept Biol, I-35131 Padua, Italy
2. Univ Padua, Dept Cardiol, I-35131 Padua, Italy
3. Univ Padua, Dept Pathol, I-35131 Padua, Italy
4. Univ Padua, CRIBI, I-35131 Padua, Italy
5. Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA |
| Publisher: UNIV CHICAGO PRESS, 1427 E 60TH ST, CHICAGO, IL 60637-2954 USA |
| Subject Category: Genetics & Heredity |
| IDS Number: 609CD |
| ISSN: 0002-9297 |
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