Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome

J Pediatr. 1997 Sep;131(3):447-9. doi: 10.1016/s0022-3476(97)80074-1.


We identified the T8993G mitochondrial mutation in a female infant who died of Leigh syndrome. The proportion of mutant mitochondrial DNA increased to near homoplasmy in three generations of the pedigree. A similarly high proportion of mutant mitochondrial DNA was found in the chorionic villi and in fetal tissues from a pregnancy interrupted because of the risk of Leigh syndrome. This study supports the concept that prenatal diagnosis can be used for Leigh syndrome with the T8993G mitochondrial DNA mutation.

Publication types

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

MeSH terms

  • Abortion, Therapeutic
  • Chorionic Villi Sampling
  • DNA Mutational Analysis
  • DNA, Mitochondrial / analysis*
  • Female
  • Genetic Testing / methods*
  • Humans
  • Infant
  • Leigh Disease / genetics*
  • Mutation / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Restriction Mapping
  • Risk Factors


  • DNA, Mitochondrial