Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

Nat Genet. 2002 Feb;30(2):145-6. doi: 10.1038/ng819. Epub 2002 Jan 22.


Mutations of mitochondrial DNA (mtDNA) are an important cause of genetic disease. We describe a family with an unusual homoplasmic mutation that resulted in six neonatal deaths and one surviving child with Leigh syndrome. The mother is clinically normal, but a severe biochemical and molecular genetic defect was present in both a fatally affected child and the mother. This family highlights the role of homoplasmic mt-tRNA mutations in genetic disease.

Publication types

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

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Leigh Disease / genetics
  • Male
  • Mitochondrial Diseases / genetics*
  • Mutation*
  • Pedigree
  • Phenotype


  • DNA, Mitochondrial