Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein

Rebecca Sparkes; David Patton; Francois Bernier

doi:10.1017/S1047951107000042

Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein

Cardiol Young. 2007 Apr;17(2):215-7. doi: 10.1017/S1047951107000042. Epub 2007 Jan 23.

Authors

Rebecca Sparkes¹, David Patton, Francois Bernier

Affiliation

¹ Department of Medical Genetics, University of Calgary, Alberta, Canada.

PMID: 17244376
DOI: 10.1017/S1047951107000042

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cardiomyopathy, Dilated / etiology*
Cardiomyopathy, Dilated / genetics
Cardiomyopathy, Dilated / metabolism
Child, Preschool
DNA / genetics*
Female
Follow-Up Studies
Humans
Infant
Infant, Newborn
Male
Membrane Transport Proteins / genetics*
Mitochondrial Diseases / complications*
Mitochondrial Diseases / genetics
Mitochondrial Diseases / metabolism
Mitochondrial Membrane Transport Proteins
Mitochondrial Proteins / genetics*
Mutation*
Retrospective Studies
Risk Factors

Substances

DNAJC19 protein, human
Membrane Transport Proteins
Mitochondrial Membrane Transport Proteins
Mitochondrial Proteins
DNA