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.
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.
Authors: Amutha Boominathan; Shon Vanhoozer; Nathan Basisty; Kathleen Powers; Alexandra L Crampton; Xiaobin Wang; Natalie Friedricks; Birgit Schilling; Martin D Brand; Matthew S O'Connor Journal: Nucleic Acids Res Date: 2016-09-04 Impact factor: 16.971
Authors: Pirjo Isohanni; Christopher J Carroll; Christopher B Jackson; Max Pohjanpelto; Tuula Lönnqvist; Anu Suomalainen Journal: Neurogenetics Date: 2018-01-19 Impact factor: 2.660
Authors: Laura Kytövuori; Joonas Lipponen; Harri Rusanen; Tuomas Komulainen; Mika H Martikainen; Kari Majamaa Journal: J Neurol Date: 2016-08-08 Impact factor: 4.849