title: Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
abstract: Cytochrome c oxidase (COX) deficiency is one of the major causes of Leigh Syndrome (LS), a fatal encephalopathy of infancy or childhood, characterized by symmetrical lesions in the basal ganglia and brainstem. Mutations in the nuclear genes encoding COX subunits have not been found in patients with LS and COX deficiency, but mutations have been identified in SURF1. SURF1 encodes a factor involved in COX biogenesis. To date, 30 different mutations have been reported in 40 unrelated patients. We aim to provide an overview of all known mutations in SURF1, and to propose a common nomenclature. Twelve of the mutations were insertion/deletion mutations in exons 1, 4, 6, 8, and 9; 10 were missense/nonsense mutations in exons 2, 4, 5, 7, and 8; and eight were detected at splicing sites in introns 3 to 7. The most frequent mutation was 312_321del 311_312insAT which was found in 12 patients out of 40. Twenty mutations have been described only once. We also list all polymorphisms discovered to date.
authors.affiliation: Laboratoire CERTO, Faculté Necker, Paris, France.
authors.forename: M O
authors.initials: MO
authors.lastname: Péquignot
authors.forename: R
authors.initials: R
authors.lastname: Dey
authors.forename: M
authors.initials: M
authors.lastname: Zeviani
authors.forename: V
authors.initials: V
authors.lastname: Tiranti
authors.forename: C
authors.initials: C
authors.lastname: Godinot
authors.forename: A
authors.initials: A
authors.lastname: Poyau
authors.forename: C
authors.initials: C
authors.lastname: Sue
authors.forename: S
authors.initials: S
authors.lastname: Di Mauro
authors.forename: M
authors.initials: M
authors.lastname: Abitbol
authors.forename: C
authors.initials: C
authors.lastname: Marsac
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D030401:Cytochrome-c Oxidase Deficiency; D004252:DNA Mutational Analysis; D003576:Electron Transport Complex IV / Q000235:genetics; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D007438:Introns / Q000235:genetics; D007888:Leigh Disease / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D009626:Terminology as Topic
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; D022821:RNA Splice Sites; C092928:Surf-1 protein; D003576:Electron Transport Complex IV