A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14

Giovanni Maria Severini, Maja Krajinovic, Bruno Pinamonti, Gianfranco Sinagra, Paolo Fioretti, Maria Cristiana Brunazzi, Arturo Falaschi, Fulvio Camerini, Mauro Giacca, Luisa Mestroni, Andrea Di Lenarda, Gerardina Lardieri, Tullio Morgera, Furio Silvestri, Rossana Bussani, Milla Davanzo, Matteo Vatta, Jelena Milasin

Research output: Contribution to journalArticlepeer-review

Abstract

Familial arrhythmogenic right ventricular cardiomyopathy or dysplasia (ARVD) is an idiopathic heart muscle disease with an autosomal-dominant pattern of transmission, characterized by fibro-fatty replacement of the right ventricular myocardium and ventricular arrhythmias. Recently, linkage to the chromosome 14q23-q24 (locus D14S42) has been reported in two families. In the present study, three unrelated families with ARVD were investigated. According to strict diagnostic criteria, 13 of 37 members were considered to be affected. Linkage to the D14S42 locus was excluded. On the other hand, linkage was found in the region 14q12-q22 in all three families (cumulative two-point lod score is 3.26 for D14S252), with no recombination between the detected locus and the disease gene. With multipoint linkage analysis, a maximal cumulative lod score of 4.7 was obtained in the region between loci D14S252 and D14S257. These data indicate that a novel gene causing familial ARVD (provisionally named ARVD2) maps to the long arm of chromosome 14, thus supporting the hypothesis of genetic heterogeneity in this disease.

Original languageEnglish
Pages (from-to)193-200
Number of pages8
JournalGenomics
Volume31
Issue number2
DOIs
Publication statusPublished - Jan 15 1996

ASJC Scopus subject areas

  • Genetics

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