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Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes
  1. Stephanie M Ware (stephanie.ware{at}cchmc.org)
  1. Cincinnati Children's Hospital Medical Center, United States
    1. Qing Zhang
    1. Baylor College of Medicine, United States
      1. Erin Miller
      1. Cincinnati Children's Hospital, United States
        1. Ye-Wei Ma
        1. Baylor College of Medicine, United States
          1. Lin-Ya Tang
          1. Baylor College of Medicine, United States
            1. Brenda Wong
            1. Cincinnati Children's Hospital, United States
              1. Robert Spicer
              1. Cincinnati Children's Hospital, United States
                1. William Craigen
                1. Baylor College of Medicine, United States
                  1. Lee-Jun Wong
                  1. Baylor College of Medicine, United States

                    Abstract

                    Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. We report four unrelated patients presenting as infants with isolated hypertrophic cardiomyopathy in whom a novel mitochondrial m.8528T>C mutation was identified. This results in a change of the initiation codon in ATPase6 to threonine and a concurrent change from a highly conserved hydrophobic amino acid, tryptophan, at position 55 of ATPase8 to a highly basic arginine. This is the first report of a mutation affecting both mitochondrial genome encoded Complex V subunit proteins. Testing of family members of one patient indicates that the mutation is heteroplasmic and correlated with disease. Mitochondrial genome sequencing should be considered in patients with infantile hypertrophic cardiomyopathy.

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