title: Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes.
abstract: Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1) is an autosomal dominant disorder characterised by progressive degeneration of right ventricular myocardium, arrhythmias and risk of sudden death. By linkage analysis, we previously mapped the involved gene to chromosome 14q24.3. In the present study we report on linkage analysis of one additional and unrelated family, which enabled to confirm previous locus assignment. Another family is reported, in which genetic and clinical data suggest linkage to the same locus. Direct sequencing of DNA from individuals belonging to established ARVD1 families failed to detect causative mutations in exonic sequences of four genes (POMT2, TGFbeta3, KIAAA1036 and KIAA0759) expressed in the heart and which defects could possibly induce plasma membrane instability or apoptosis, key features of ARVD pathogenesis.
authors.affiliation: Department of Biology, University of Padua, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Rampazzo
authors.forename: Giorgia
authors.initials: G
authors.lastname: Beffagna
authors.forename: Andrea
authors.initials: A
authors.lastname: Nava
authors.forename: Gianluca
authors.initials: G
authors.lastname: Occhi
authors.forename: Barbara
authors.initials: B
authors.lastname: Bauce
authors.forename: Massimo
authors.initials: M
authors.lastname: Noiato
authors.forename: Cristina
authors.initials: C
authors.lastname: Basso
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Frigo
authors.forename: Gaetano
authors.initials: G
authors.lastname: Thiene
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Towbin
authors.forename: Gian Antonio
authors.initials: GA
authors.lastname: Danieli
mesh_terms: D000328:Adult; D000368:Aged; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics*; D005091:Exons; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008364:Mannosyltransferases / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016212:Transforming Growth Factor beta / Q000235:genetics; D053782:Transforming Growth Factor beta3
chemical_list: D016212:Transforming Growth Factor beta; D053782:Transforming Growth Factor beta3; D008364:Mannosyltransferases