Mutations in the SURF1 gene associated with Leigh Syndrome and cytochrome c oxidase deficiency

Marie O. Pquignot, Runu Dey, Massimo Zeviani, Valeria Tiranti, Catherine Godinot, Alain Poyau, Caroline Sue, Salvatore Di Mauro, Marc Abitbol, Ccile Marsac

Research output: Contribution to journalArticle

70 Citations (Scopus)

Abstract

Cytochrome c oxidase (COX) deficiency is one of the major causes of Leigh Syndrome (LS), a fatal encephalopathy of infancy or childhood, characterized by symmetrical lesions in the basal ganglia and brainstem. Mutations in the nuclear genes encoding COX subunits have not been found in patients with LS and COX deficiency, but mutations have been identified in SURF1. SURF1 encodes a factor involved in COX biogenesis. To date, 30 different mutations have been reported in 40 unrelated patients. We aim to provide an overview of all known mutations in SURF1, and to propose a common nomenclature. Twelve of the mutations were insertion/deletion mutations in exons 1, 4, 6, 8, and 9; 10 were missense/nonsense mutations in exons 2, 4, 5, 7, and 8; and eight were detected at splicing sites in introns 3 to 7. The most frequent mutation was 312_321del 311_312insAT which was found in 12 patients out of 40. Twenty mutations have been described only once. We also list all polymorphisms discovered to date.

Original languageEnglish
Pages (from-to)374-381
Number of pages8
JournalHuman Mutation
Volume17
Issue number5
DOIs
Publication statusPublished - 2001

Fingerprint

Cytochrome-c Oxidase Deficiency
Leigh Disease
Mutation
Genes
Oxidoreductases
Exons
INDEL Mutation
Nonsense Codon
Brain Diseases
Missense Mutation
Basal Ganglia
Terminology
Introns
Brain Stem

Keywords

  • COX
  • Cytochrome oxidase deficiency
  • Leigh syndrome
  • LS
  • SURF1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Pquignot, M. O., Dey, R., Zeviani, M., Tiranti, V., Godinot, C., Poyau, A., ... Marsac, C. (2001). Mutations in the SURF1 gene associated with Leigh Syndrome and cytochrome c oxidase deficiency. Human Mutation, 17(5), 374-381. https://doi.org/10.1002/humu.1112

Mutations in the SURF1 gene associated with Leigh Syndrome and cytochrome c oxidase deficiency. / Pquignot, Marie O.; Dey, Runu; Zeviani, Massimo; Tiranti, Valeria; Godinot, Catherine; Poyau, Alain; Sue, Caroline; Mauro, Salvatore Di; Abitbol, Marc; Marsac, Ccile.

In: Human Mutation, Vol. 17, No. 5, 2001, p. 374-381.

Research output: Contribution to journalArticle

Pquignot, MO, Dey, R, Zeviani, M, Tiranti, V, Godinot, C, Poyau, A, Sue, C, Mauro, SD, Abitbol, M & Marsac, C 2001, 'Mutations in the SURF1 gene associated with Leigh Syndrome and cytochrome c oxidase deficiency', Human Mutation, vol. 17, no. 5, pp. 374-381. https://doi.org/10.1002/humu.1112
Pquignot, Marie O. ; Dey, Runu ; Zeviani, Massimo ; Tiranti, Valeria ; Godinot, Catherine ; Poyau, Alain ; Sue, Caroline ; Mauro, Salvatore Di ; Abitbol, Marc ; Marsac, Ccile. / Mutations in the SURF1 gene associated with Leigh Syndrome and cytochrome c oxidase deficiency. In: Human Mutation. 2001 ; Vol. 17, No. 5. pp. 374-381.
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