title: Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.
abstract: Leigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a nonsense mutation (c.868dupT), both in heterozygosity. Blue native PAGE showed absence of assembled complex IV. This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients.
authors.affiliation: CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal.
authors.forename: Carolina
authors.initials: C
authors.lastname: Ribeiro
authors.affiliation: CHUC - Coimbra University Hospitals, Portugal.
authors.forename: Maria
authors.initials: M
authors.lastname: do Carmo Macário
authors.affiliation: CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal.
authors.forename: Ana Teresa
authors.initials: AT
authors.lastname: Viegas
authors.affiliation: CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal.
authors.forename: João
authors.initials: J
authors.lastname: Pratas
authors.affiliation: CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal.
authors.forename: Maria João
authors.initials: MJ
authors.lastname: Santos
authors.affiliation: CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal.
authors.forename: Marta
authors.initials: M
authors.lastname: Simões
authors.affiliation: CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal.
authors.forename: Cândida
authors.initials: C
authors.lastname: Mendes
authors.affiliation: CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal.
authors.forename: Mafalda
authors.initials: M
authors.lastname: Bacalhau
authors.affiliation: Metabolic Unit, Centre for Child Development, Pediatric Hospital of Coimbra - CHUC, Portugal.
authors.forename: Paula
authors.initials: P
authors.lastname: Garcia
authors.affiliation: Faculty of Medicine, University of Coimbra, Portugal; Metabolic Unit, Centre for Child Development, Pediatric Hospital of Coimbra - CHUC, Portugal.
authors.forename: Luísa
authors.initials: L
authors.lastname: Diogo
authors.affiliation: CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal. Electronic address: mgrazina.fmuc@gmail.com.
authors.forename: Manuela
authors.initials: M
authors.lastname: Grazina
mesh_terms: D000328:Adult; D002648:Child; D030401:Cytochrome-c Oxidase Deficiency; D005796:Genes; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis* / Q000473:pathology*; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency*; D024101:Mitochondrial Proteins / Q000172:deficiency*; D017384:Sequence Deletion
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C092928:Surf-1 protein
keywords: COX deficiency; Deletion; Leigh syndrome; Nonsense mutation; SURF1