title: SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).
abstract: SUCLA2 encodes for a subunit of succinyl-coenzyme A synthase, the enzyme that reversibly synthesises succinyl-coenzyme A and ATP from succinate, coenzyme A and ADP in the Krebs cycle. Disruption of SUCLA2 function can lead to mitochondrial DNA depletion. Patients with a SUCLA2 mutation present with a rare but distinctive deafness-dystonia syndrome. Additionally, they exhibit elevated levels of the characteristic biochemical markers: methylmalonate, C4-dicarboxylic carnitine and lactate are increased in both plasma and urine. Thus far, eight different disease-causing SUCLA2 mutations, of which six missense mutations and two splice site mutations, have been described in the literature. Here, we present the first patient with an intragenic deletion in SUCLA2 and review the patients described in literature.
authors.affiliation: Amalia Children's Hospital, Radboud University Nijmegen, Nijmegen, The Netherlands.
authors.forename: Roeltje R
authors.initials: RR
authors.lastname: Maas
authors.affiliation: Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany.
authors.forename: Adela Della
authors.initials: AD
authors.lastname: Marina
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen, Nijmegen, The Netherlands.|Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.
authors.forename: Arjan P M
authors.initials: AP
authors.lastname: de Brouwer
authors.affiliation: Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud UMC, Nijmegen, The Netherlands.
authors.forename: Ron A
authors.initials: RA
authors.lastname: Wevers
authors.affiliation: Amalia Children's Hospital, Radboud University Nijmegen, Nijmegen, The Netherlands.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Rodenburg
authors.affiliation: Amalia Children's Hospital, Radboud University Nijmegen, Nijmegen, The Netherlands. saskia-wortmann@gmx.de.
authors.forename: Saskia B
authors.initials: SB
authors.lastname: Wortmann
keywords: 3-Methylglutaconic aciduria; Hearing impairment; Mitochondrial DNA depletion; Movement disorder; SUCLG1