TY - JOUR
T1 - A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14
AU - Severini, Giovanni Maria
AU - Krajinovic, Maja
AU - Pinamonti, Bruno
AU - Sinagra, Gianfranco
AU - Fioretti, Paolo
AU - Brunazzi, Maria Cristiana
AU - Falaschi, Arturo
AU - Camerini, Fulvio
AU - Giacca, Mauro
AU - Mestroni, Luisa
AU - Di Lenarda, Andrea
AU - Lardieri, Gerardina
AU - Morgera, Tullio
AU - Silvestri, Furio
AU - Bussani, Rossana
AU - Davanzo, Milla
AU - Vatta, Matteo
AU - Milasin, Jelena
PY - 1996/1/15
Y1 - 1996/1/15
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0030050430&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030050430&partnerID=8YFLogxK
U2 - 10.1006/geno.1996.0031
DO - 10.1006/geno.1996.0031
M3 - Article
C2 - 8824801
AN - SCOPUS:0030050430
VL - 31
SP - 193
EP - 200
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 2
ER -