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

Leigh syndrome is a rare pediatric neurodegenerative disorder attributed to impaired mitochondrial energy metabolism. Mutations in SURF1 have been des cribed in several patients with Leigh syndrome associated with cytochrome c oxidase deficiency. We report a new 18-bp deletion (821del18), spanning th e splice donor junction of exon 8 of SURF1, in an infant presenting with cy tochrome c oxidase-deficient Leigh syndrome and hypertrichosis. cDNA sequen cing demonstrated that this deletion results in a messenger lacking exon 8. RT-PCR experiments suggested a rapid degradation of the aberrant mRNA spec ies from the 5'-end. (C) 2001 Academic Press.