Journal article
The Locus of a Novel Gene Responsible for Arrhythmogenic Right-Ventricular Dysplasia Characterized by Early Onset and High Penetrance Maps to Chromosome 10p12-p14
American journal of human genetics, Vol.66(1), pp.148-156
2000
DOI: 10.1086/302713
PMCID: PMC1288320
PMID: 10631146
Abstract
Arrhythmogenic right-ventricular dysplasia (ARVD), a cardiomyopathy inherited as an autosomal-dominant disease, is characterized by fibro-fatty infiltration of the right-ventricular myocardium. Four loci for ARVD have been mapped in the Italian population, and recently the first locus was mapped in inhabitants of North America. None of the genes have been identified. We have now identified another North American family with early onset of ARVD and high penetrance. All of the children with the disease haplotype had pathological or clinical evidence of the disease at age <10 years. The family spans five generations, having 10 living and 2 dead affected individuals, with ARVD segregating as an autosomal-dominant disorder. Genetic linkage analysis excluded known loci, and a novel locus was identified on chromosome 10p12-p14. A peak two-point LOD score of 3.92 was obtained with marker D10S1664, at a recombination fraction of 0. Additional genotyping and haplotype analysis identified a shared region of 10.6 cM between marker D10S547 and D10S1653. Thus, a novel gene responsible for ARVD resides on the short arm of chromosome 10. This disease is intriguing, since it initiates exclusively in the right ventricle and exhibits pathological features of apoptosis. Chromosomal localization of the ARVD gene is the first step in identification of the genetic defect and the unraveling of the molecular basis responsible for the pathogenesis of the disease.
Details
- Title: Subtitle
- The Locus of a Novel Gene Responsible for Arrhythmogenic Right-Ventricular Dysplasia Characterized by Early Onset and High Penetrance Maps to Chromosome 10p12-p14
- Creators
- Duanxiang Li - Section of Cardiology, DeBakey Heart Center, HoustonFerhaan Ahmad - Section of Cardiology, DeBakey Heart Center, HoustonMartin J Gardner - Queen Elizabeth Health Science Center, Halifax, Nova Scotia, CanadaDonald Weilbaecher - Department of Pathology, Baylor College of Medicine, HoustonRita Hill - Section of Cardiology, DeBakey Heart Center, HoustonAkihiko Karibe - Section of Cardiology, DeBakey Heart Center, HoustonOscar Gonzalez - Section of Cardiology, DeBakey Heart Center, HoustonTerry Tapscott - Section of Cardiology, DeBakey Heart Center, HoustonGeoffrey P Sharratt - Izaak Walter Killam Children's Hospital, Halifax, Nova Scotia, CanadaLinda L Bachinski - Section of Cardiology, DeBakey Heart Center, HoustonRobert Roberts - Section of Cardiology, DeBakey Heart Center, Houston
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.66(1), pp.148-156
- Publisher
- Elsevier Inc
- DOI
- 10.1086/302713
- PMID
- 10631146
- PMCID
- PMC1288320
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Language
- English
- Date published
- 2000
- Academic Unit
- Radiology; Molecular Physiology and Biophysics; Cardiovascular Medicine; Fraternal Order of Eagles Diabetes Research Center; Internal Medicine
- Record Identifier
- 9984025562702771
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