title: Novel mutation in SUCLA2 identified on sequencing analysis.
abstract: Succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2)-related mitochondrial DNA depletion syndrome is caused by mutations affecting the ADP-using isoform of the beta subunit in succinyl-CoA synthase, which is involved in the Krebs cycle. The SUCLA2 protein is found mostly in heart, skeletal muscle, and brain tissues. SUCLA2 mutations result in a mitochondrial disorder that manifests as deafness, lesions in the basal ganglia, and encephalomyopathy accompanied by dystonia. Such mutations are generally associated with mildly increased plasma methylmalonic acid, increased plasma lactate, elevated plasma carnitine esters, and the presence of methylmalonic acid in urine. In this case report, we describe a new mutation in a patient with a succinyl-CoA synthase deficiency caused by an SUCLA2 defect.
authors.affiliation: Department of Pediatric Neurology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
authors.forename: Olcay
authors.initials: O
authors.lastname: Güngör
authors.affiliation: Department of Pediatric Emergency, Faculty of Medicine, Cukurova University, Adana, Turkey.
authors.forename: Ahmet Kağan
authors.initials: AK
authors.lastname: Özkaya
authors.affiliation: Department of Radiology, Necip Fazıl City Hospital, Kahramanmaras, Turkey.
authors.forename: Gülay
authors.initials: G
authors.lastname: Güngör
authors.affiliation: Department of Medical Genetics, Dr Ersin Arslan State Hospital, Gaziantep, Turkey.
authors.forename: Kadri
authors.initials: K
authors.lastname: Karaer
authors.affiliation: Department of Pediatric Neurology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
authors.forename: Cengiz
authors.initials: C
authors.lastname: Dilber
authors.affiliation: Department of Pediatric Neurology, Faculty of Medicine, Gazi University, Ankara, Turkey.
authors.forename: Kürşad
authors.initials: K
authors.lastname: Aydin
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D011247:Pregnancy; D013389:Succinate-CoA Ligases / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial; D013389:Succinate-CoA Ligases; C518788:SUCLA2 protein, human
keywords: SUCLA2; encephalomyopathy; microcephaly; mitochondrial DNA depletion