Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome

Pediatr Neurol. 1998 Mar;18(3):275-7. doi: 10.1016/s0887-8994(97)00187-2.

Abstract

This study reports on a patient with Leigh syndrome with a T-to-C mutation at nucleotide 8993 of mitochondrial deoxyribonucleic acid (T8993C). The authors reviewed 10 Leigh syndrome patients, including ours, with T8993C. Compared with 18 reported patients with Leigh syndrome caused by a T-to-G mutation at nucleotide 8993 (T8993G), Leigh syndrome with T8993C was characterized by a significantly higher frequency of ataxia (P < 0.01). None of the reviewed T8993C-associated Leigh syndrome patients had retinitis pigmentosa, which is one of the characteristic findings in Leigh syndrome with T8993G. The milder symptoms of T8993C-Leigh syndrome can be explained by the milder complex V dysfunction; however, the higher frequency of ataxia in T8993C-Leigh syndrome requires more study.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Cytidine*
  • DNA, Mitochondrial / genetics*
  • Female
  • Guanine*
  • Humans
  • Leigh Disease / genetics*
  • Phenotype
  • Point Mutation*
  • Thymidine*

Substances

  • DNA, Mitochondrial
  • Cytidine
  • Guanine
  • Thymidine