Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

For a phenotypic description and a discussion of genetic heterogeneity of this disorder, see ARVD1 (107970).

Clinical Features

Li et al. (2000) reported a North American family with early-onset arrhythmogenic right ventricular dysplasia (ARVD) and high penetrance. All of the children with the disease haplotype had pathologic or clinical evidence of the disease at under 10 years of age. The family spanned 5 generations, having 10 living and 2 dead affected individuals, with ARVD segregating as an autosomal dominant.

Mapping

By linkage analysis in a North American family with early-onset arrhythmogenic right ventricular dysplasia, Li et al. (2000) first excluded the 5 previously known ARVD loci, and a novel locus was identified on 10p14-p12. A peak 2-point lod score of 3.92 was obtained with marker D10S1664 at a recombination fraction of 0.0. Additional genotyping and haplotype analysis identified a shared region of 10.6 cM between markers D10S547 and D10S1653.

Molecular Genetics

Li et al. (2000) investigated the involvement of the PTPLA gene (610467) in the family with ARVD mapped to 10p by Li et al. (2000). A lys64-to-gln missense mutation was identified in all affected members, but was also found in 1 unaffected family member and 3 unaffected, unrelated controls, and is, therefore, likely to represent a benign polymorphism.