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

Siôn L. Williams, Jan Willem Taanman, Hana Hansíková, Hana Houšt'Ková, Subir Chowdhury, Jiří Zeman, Josef Houštěk

Research output: Contribution to journalArticle

21 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)340-343
Number of pages4
JournalMolecular Genetics and Metabolism
Volume73
Issue number4
DOIs
StatePublished - Jan 1 2001
Externally publishedYes

Keywords

  • Cytochrome c oxidase deficiency
  • Exon skipping
  • Hypertrichosis
  • Leigh syndrome
  • Mitochondrial disorder
  • SURF1

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

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