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

Suzanne C. E. H. Sallevelt*, Joseph C. F. M. Dreesen, Marion Druesedau, Debby M. E. I. Hellebrekers, Aimee D. C. Paulussen, Edith Coonen, Ronald J. T. Van Golde, Joep P. M. Geraedts, Luca Gianaroli, Maria C. Magli, Massimo Zeviani, Hubert J. M. Smeets, Christine E. M. de Die-Smulders

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

13 Citations (Web of Science)

Abstract

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.

Original languageEnglish
Pages (from-to)698-703
Number of pages6
JournalHuman Reproduction
Volume32
Issue number3
DOIs
Publication statusPublished - Mar 2017

Keywords

  • PGD
  • mitochondrial DNA (mtDNA) mutation
  • T14487C
  • MT-ND6
  • Leigh syndrome
  • PREIMPLANTATION GENETIC DIAGNOSIS
  • COMPLEX-I DEFICIENCY
  • LEIGH-SYNDROME
  • ND6 GENE
  • T14487C MUTATION
  • MTDNA MUTATIONS
  • PATIENT
  • M.14487T-GREATER-THAN-C
  • SEGREGATION
  • DISORDERS

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