A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis

Mol Genet Metab. 2001 Aug;73(4):340-3. doi: 10.1006/mgme.2001.3206.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing / genetics*
  • Base Sequence
  • Blotting, Western
  • Cytochrome-c Oxidase Deficiency*
  • Electron Transport Complex IV / genetics
  • Electron Transport Complex IV / metabolism
  • Exons / genetics*
  • Female
  • Fibroblasts
  • Humans
  • Hypertrichosis / enzymology
  • Hypertrichosis / genetics*
  • Infant
  • Leigh Disease / enzymology
  • Leigh Disease / genetics*
  • Membrane Proteins
  • Mitochondrial Proteins
  • Mutation / genetics*
  • Polymerase Chain Reaction
  • Proteins / genetics*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Sequence Deletion / genetics

Substances

  • Membrane Proteins
  • Mitochondrial Proteins
  • Proteins
  • RNA, Messenger
  • Surf-1 protein
  • Electron Transport Complex IV