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, Robert L Spicer, W. J. Craigen, B. A. Kozel, D. K. Grange, L. J. Wong

Research output: Contribution to journalArticle

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

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Cardiomyopathies
Adenosine Triphosphatases
Mutation
Mitochondrial Genome
Hypertrophic Cardiomyopathy
Genes
Initiator Codon
Protein Subunits
Threonine
Tryptophan
Arginine
Morbidity
Amino Acids
Mortality

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Ware, S. M., El-Hassan, N., Kahler, S. G., Zhang, Q., Ma, Y. W., Miller, E., ... 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

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. / Ware, S. M.; El-Hassan, N.; Kahler, S. G.; Zhang, Q.; Ma, Y. W.; Miller, E.; Wong, B.; Spicer, Robert L; Craigen, W. J.; Kozel, B. A.; Grange, D. K.; Wong, L. J.

In: Journal of Medical Genetics, Vol. 46, No. 5, 01.05.2009, p. 308-314.

Research output: Contribution to journalArticle

Ware, SM, El-Hassan, N, Kahler, SG, Zhang, Q, Ma, YW, Miller, E, Wong, B, Spicer, RL, Craigen, WJ, Kozel, BA, Grange, DK & Wong, LJ 2009, 'Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes', Journal of Medical Genetics, vol. 46, no. 5, pp. 308-314. https://doi.org/10.1136/jmg.2008.063149
Ware, S. M. ; El-Hassan, N. ; Kahler, S. G. ; Zhang, Q. ; Ma, Y. W. ; Miller, E. ; Wong, B. ; Spicer, Robert L ; Craigen, W. J. ; Kozel, B. A. ; Grange, D. K. ; Wong, L. J. / Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. In: Journal of Medical Genetics. 2009 ; Vol. 46, No. 5. pp. 308-314.
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