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: S L Williams, J W Taanman, H Hansíková, H Houst'ková, S Chowdhury, J Zeman, J Houstek
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 73 Issue 4 Pg. 340-3 (Aug 2001) ISSN: 1096-7192 [Print] United States
• PMID: 11509016 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2001 Academic Press.

Chemical References

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

Topics

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