title: A novel ATP8 gene mutation in an infant with tetralogy of Fallot.
abstract: We report the case of a novel mitochondrial DNA mutation in the MT-ATP8 gene in an infant with tetralogy of Fallot. Next-generation sequencing was applied to sequence whole mitochondrial DNA of the patient. A known Leber's hereditary optic neuropathy-associated mutation (G9804A), a heteroplasmic T7501C mutation (17%), and a novel C8481 T Pro > Leu missense mutation in the MT-ATP8 gene was identified.
authors.affiliation: 1 Department of Cardiovascular Surgery, Istanbul Medical Faculty, Istanbul University, Turkey.
authors.forename: Turkan
authors.initials: T
authors.lastname: Tansel
authors.affiliation: 2 Department of Genetics, Institute for Experimental Medicine, Istanbul University, Turkey.
authors.forename: Ferda
authors.initials: F
authors.lastname: Paçal
authors.affiliation: 2 Department of Genetics, Institute for Experimental Medicine, Istanbul University, Turkey.
authors.forename: Duran
authors.initials: D
authors.lastname: Ustek
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D049294:Phospholipid Transfer Proteins / Q000235:genetics*; D013771:Tetralogy of Fallot / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D049294:Phospholipid Transfer Proteins; C580722:ATP8A1 protein, human; D000251:Adenosine Triphosphatases