Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes

S. M. Ware, N. El-Hassan, S. G. Kahler, Q. Zhang, Y. W. Ma, E. Miller, B. Wong, R. L. Spicer, W. J. Craigen, B. A. Kozel, D. K. Grange, L. J. Wong

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Abstract

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.

Original languageEnglish
Pages (from-to)308-314
Number of pages7
JournalJournal of Medical Genetics
Volume46
Issue number5
DOIs
StatePublished - May 1 2009

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    Ware, S. M., El-Hassan, N., Kahler, S. G., Zhang, Q., Ma, Y. W., Miller, E., Wong, B., Spicer, R. L., Craigen, W. J., Kozel, B. A., Grange, D. K., & Wong, L. J. (2009). Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. Journal of Medical Genetics, 46(5), 308-314. https://doi.org/10.1136/jmg.2008.063149