A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
Open Access
- 9 June 2009
- journal article
- database
- Published by Hindawi Limited in Human Mutation
- Vol. 30 (9), 1278-1283
- https://doi.org/10.1002/humu.21064
Abstract
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a hereditary cardiomyopathy characterized by fibrofatty replacement of cardiomyocytes, ventricular tachyarrhythmias and sudden death. ARVD/C is mainly caused by mutations in genes encoding desmosomal proteins. However, the pathogenicity of variants is not always clear. Therefore, we created an online database (www.arvcdatabase.info), providing information on variants in ARVD/C-associated genes. We searched the literature using ARVD/C and its underlying genes as search terms. From the selected papers and our unpublished data, we collected details on the type of mutation and information provided at the protein level. A “details page” contains clinical data and references. To aid the interpretation of missense mutations, we provide data from in silico prediction methods. In May 2009 the database contained 481 variants in eight genes. A total of 144 variants are considered pathogenic, 73 are unknown/unclassified, and 264 have no known pathogenicity. The database was converted into the Leiden Open Variation Database (LOVD) format, a gene-centered collection of DNA variations. The ARVD/C database will be useful for both researchers and clinicians. It can be searched to determine if variants have been published and whether they are considered pathogenic. External users are invited to add information to improve the quantity and quality of the data entered. Hum Mutat 30:1–6, 2009.This publication has 59 references indexed in Scilit:
- Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathyNature Clinical Practice Cardiovascular Medicine, 2008
- A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular CardiomyopathyAmerican Journal of Human Genetics, 2007
- Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosisEuropean Heart Journal, 2006
- DSG2 Mutations Contribute to Arrhythmogenic Right Ventricular Dysplasia/CardiomyopathyAmerican Journal of Human Genetics, 2006
- Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsiesEuropean Heart Journal, 2006
- Arrhythmogenic right-ventricular dysplasia/cardiomyopathyCurrent Opinion in Cardiology, 2006
- Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutationsEuropean Heart Journal, 2005
- Regulatory mutations in transforming growth factor-?3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1Cardiovascular Research, 2005
- A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hairJournal of the American College of Cardiology, 2003
- Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: Early diagnosis of asymptomatic carriersJournal of the American College of Cardiology, 2002