Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein.
Dilated cardiomyopathy as seen in children is clinically and genetically heterogeneous, with an increasing proportion of cases known to be caused by disorders of single genes. An autosomal recessive syndrome with a high incidence of dilated cardiomyopathy was recently described in the Canadian Dariusleut Hutterite population. It is caused by homozygous mutations in a novel gene, DNAJC19, presumed to play a role in importation of mitochondrial proteins. We discuss the cardiac features of this syndrome, and its relationship to cardiac mitochondrial function.
Sparkes
Rebecca
R
Department of Medical Genetics, University of Calgary, Alberta, Canada.
Patton
David
D
Bernier
Francois
F
D002311:Cardiomyopathy, Dilated / Q000209:etiology* / Q000235:genetics / Q000378:metabolism; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D028361:Mitochondrial Diseases / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D012189:Retrospective Studies; D012307:Risk Factors
C511724:DNAJC19 protein, human; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D004247:DNA