A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.
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.
Kärkkäinen
Satu
S
Department of Medicine, University of Kuopio, Kuopio University Hospital, P.O. Box 1777, 70211 Kuopio, Finland.
Miettinen
Raija
R
Tuomainen
Petri
P
Kärkkäinen
Päivi
P
Heliö
Tiina
T
Reissell
Eeva
E
Kaartinen
Maija
M
Toivonen
Lauri
L
Nieminen
Markku S
MS
Kuusisto
Johanna
J
Laakso
Markku
M
Peuhkurinen
Keijo
K
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
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D003893:Desmin; D008562:Membrane Glycoproteins; C103334:metavinculin; D016596:Vinculin; D049030:Dystroglycans