Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA

Prenat Diagn. 1999 Dec;19(12):1165-8.


We report the outcome of two prenatal analyses for the T to G mutation at nucleotide 8993 in the mitochondrial DNA. This mutation is associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) and the neurodegenerative condition, Leigh syndrome. One prospective mother was the sister of a severely affected individual, and had previously had an unaffected child and a stillborn child. The second prospective mother had two unaffected children and two affected children. The mutation was not detected in the chorionic villus sample from one fetus nor in the amniocytes from the other fetus. Both pregnancies were continued, and the resulting children were healthy at two years and five years of age. Prenatal diagnosis of this mitochondrial DNA mutation is an option likely to be acceptable to some families to prevent the birth of a child at high risk for neurological disease.

Publication types

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

MeSH terms

  • Adult
  • DNA, Mitochondrial / genetics*
  • Diagnosis, Differential
  • Female
  • Humans
  • Leigh Disease / diagnosis*
  • Leigh Disease / genetics
  • Muscle Weakness / diagnosis*
  • Muscle Weakness / genetics
  • Pedigree
  • Point Mutation*
  • Pregnancy
  • Pregnancy Outcome
  • Prenatal Diagnosis*
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / genetics
  • Syndrome


  • DNA, Mitochondrial