A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis |
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| Affiliation: | a University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, Rowland Hill Street, London, NW3 2PF, United Kingdom;b Department of Paediatrics, 1st Medical Faculty, Charles University Prague, Prague, Czech Republic;c Centre for Integrated Genomics, Institute of Physiology, Academy of Sciences of the Czech Republic, Prague, Czech Republic |
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| 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. |
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| Keywords: | SURF1 exon skipping mitochondrial disorder cytochrome c oxidase deficiency Leigh syndrome hypertrichosis |
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