title: [Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].
abstract: Leigh syndrome is a heterogeneous disorder, usually due to a defect in oxidative metabolism. Mutations in SURF1 gene have been identified in patients with cytochrome c oxidase deficiency. We report a homozygous splice site deletion [516-2_516-1delAG] in a young girl presenting with cytochrome c oxidase-deficient Leigh syndrome. Identification of molecular defect is indispensable for genetic counselling and prenatal diagnosis.
authors.affiliation: Service de génétique médicale, hôpital Archet 2, 151, route de Saint-Antoine-de-Ginestière, 06202 Nice cedex 03, France.
authors.forename: S
authors.initials: S
authors.lastname: Monnot
authors.forename: B
authors.initials: B
authors.lastname: Chabrol
authors.forename: A
authors.initials: A
authors.lastname: Cano
authors.forename: J F
authors.initials: JF
authors.lastname: Pellissier
authors.forename: P
authors.initials: P
authors.lastname: Collignon
authors.forename: M F
authors.initials: MF
authors.lastname: Montfort
authors.forename: V
authors.initials: V
authors.lastname: Paquis-Flucklinger
mesh_terms: D030401:Cytochrome-c Oxidase Deficiency / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000235:genetics*; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009154:Mutation; D011506:Proteins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; C092928:Surf-1 protein