Key result
A novel mitochondrial m.8528T-->C mutation affecting both mitochondrial genome-encoded complex V subunit proteins was identified in four unrelated infants with isolated hypertrophic cardiomyopathy.
Case Report (n=4)
A novel mitochondrial m.8528T-->C mutation affecting ATPase 6 and 8 genes was identified as a cause of infantile hypertrophic cardiomyopathy, highlighting the utility of mitochondrial genome sequencing in this population.
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May support mitochondrial DNA testing in infantile hypertrophic cardiomyopathy; leaves open prevalence and causality in larger cohorts.
BACKGROUND: Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. METHODS: This study aimed to identify the mutation present in four unrelated patients who presented as infants with isolated hypertrophic cardiomyopathy. RESULTS: In all four, a novel mitochondrial m.8528T-->C mutation was identified. This results in a change of the initiation codon in ATPase 6 to threonine and a concurrent change from a highly conserved hydrophobic amino acid, tryptophan, at position 55 of ATPase 8 to a highly basic arginine. To our knowledge, this is the first report of a mutation affecting both mitochondrial genome-encoded complex V subunit proteins. Testing of the relatives of one patient indicated that the mutation is heteroplasmic and correlated with disease. CONCLUSION: Mitochondrial genome sequencing should be considered in patients with infantile hypertrophic cardiomyopathy.
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Ware et al. (2009) conducted a case report in Infantile hypertrophic cardiomyopathy (n=4). mitochondrial m.8528T-->C mutation was evaluated on Identification of genetic mutation. A novel mitochondrial m.8528T-->C mutation affecting both mitochondrial genome-encoded complex V subunit proteins was identified in four unrelated infants with isolated hypertrophic cardiomyopathy.
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