title: A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis.
abstract: Leigh syndrome is a rare pediatric neurodegenerative disorder attributed to impaired mitochondrial energy metabolism. Mutations in SURF1 have been described in several patients with Leigh syndrome associated with cytochrome c oxidase deficiency. We report a new 18-bp deletion (821del18), spanning the splice donor junction of exon 8 of SURF1, in an infant presenting with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis. cDNA sequencing demonstrated that this deletion results in a messenger lacking exon 8. RT-PCR experiments suggested a rapid degradation of the aberrant mRNA species from the 5'-end.
authors.affiliation: University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, Rowland Hill Street, London NW3 2PF, United Kingdom.
authors.forename: S L
authors.initials: SL
authors.lastname: Williams
authors.forename: J W
authors.initials: JW
authors.lastname: Taanman
authors.forename: H
authors.initials: H
authors.lastname: Hansíková
authors.forename: H
authors.initials: H
authors.lastname: Houst'ková
authors.forename: S
authors.initials: S
authors.lastname: Chowdhury
authors.forename: J
authors.initials: J
authors.lastname: Zeman
authors.forename: J
authors.initials: J
authors.lastname: Houstek
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D001483:Base Sequence; D015153:Blotting, Western; D030401:Cytochrome-c Oxidase Deficiency; D003576:Electron Transport Complex IV / Q000235:genetics / Q000378:metabolism; D005091:Exons / Q000235:genetics*; D005260:Female; D005347:Fibroblasts; D006801:Humans; D006983:Hypertrichosis / Q000201:enzymology / Q000235:genetics*; D007223:Infant; D007888:Leigh Disease / Q000201:enzymology / Q000235:genetics*; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; D012333:RNA, Messenger; C092928:Surf-1 protein; D003576:Electron Transport Complex IV