title: A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.
abstract: Approximately 20-35% of cases of idiopathic dilated cardiomyopathy are familial. DCM-associated mutations have been reported in 13 genes including the desmin, delta-sarcoglycan, and metavinculin genes. This study screened for variants in these genes in Finnish patients with DCM. All coding regions of the desmin and delta-sarcoglycan genes and the metavinculin-specific exon of the vinculin gene were screened in 52 DCM patients from eastern Finland by PCR-SSCP. We detected a novel mutation, Arg71Thr, in the delta-sarcoglycan gene in two members of a small DCM family. One of the mutation carriers fulfills diagnostic criteria for DCM and is also symptomatic. The other mutation carrier has slightly dilated left ventricle and well preserved systolic function. Therefore carriers of the Arg71Thr mutation had a relatively mild phenotype and a late onset of the disease. Disease-associated mutations were not found in the desmin gene or the metavinculin-specific exon of the vinculin gene. We conclude that the desmin and delta-sarcoglycan genes are not predominant disease-causing genes in patients with DCM in eastern Finland.
authors.affiliation: Department of Medicine, University of Kuopio, Kuopio University Hospital, P.O. Box 1777, 70211 Kuopio, Finland.
authors.forename: Satu
authors.initials: S
authors.lastname: Kärkkäinen
authors.forename: Raija
authors.initials: R
authors.lastname: Miettinen
authors.forename: Petri
authors.initials: P
authors.lastname: Tuomainen
authors.forename: Päivi
authors.initials: P
authors.lastname: Kärkkäinen
authors.forename: Tiina
authors.initials: T
authors.lastname: Heliö
authors.forename: Eeva
authors.initials: E
authors.lastname: Reissell
authors.forename: Maija
authors.initials: M
authors.lastname: Kaartinen
authors.forename: Lauri
authors.initials: L
authors.lastname: Toivonen
authors.forename: Markku S
authors.initials: MS
authors.lastname: Nieminen
authors.forename: Johanna
authors.initials: J
authors.lastname: Kuusisto
authors.forename: Markku
authors.initials: M
authors.lastname: Laakso
authors.forename: Keijo
authors.initials: K
authors.lastname: Peuhkurinen
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics*; D003893:Desmin / Q000235:genetics; D049030:Dystroglycans; D005260:Female; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D016596:Vinculin / Q000031:analogs & derivatives* / Q000235:genetics
chemical_list: D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D003893:Desmin; D008562:Membrane Glycoproteins; C103334:metavinculin; D016596:Vinculin; D049030:Dystroglycans