PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy

Hum Reprod. 2017 Mar 1;32(3):698-703. doi: 10.1093/humrep/dew356.


We report on the first PGD performed for the m.14487 T>C mitochondrial DNA (mtDNA) mutation in the MT-ND6 gene, associated with Leigh syndrome. The female carrier gave birth to a healthy baby boy at age 42. This case adds to the successes of PGD for mtDNA mutations.

Keywords: Leigh syndrome; MT-ND6; PGD; T14487C; mitochondrial DNA (mtDNA) mutation.

Publication types

  • Case Reports

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Leigh Disease / diagnosis*
  • Leigh Disease / genetics
  • Male
  • Mitochondria / genetics
  • Mutation*
  • Pedigree
  • Pregnancy
  • Preimplantation Diagnosis
  • Treatment Outcome


  • DNA, Mitochondrial