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 Drüsedau, 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

Research output: Contribution to journalArticle

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 1 2017

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Keywords

  • Leigh syndrome
  • Mitochondrial DNA (mtDNA) mutation
  • MT-ND6
  • PGD
  • T14487C

ASJC Scopus subject areas

  • Reproductive Medicine
  • Rehabilitation
  • Obstetrics and Gynaecology

Cite this

Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Drüsedau, M., Hellebrekers, D. M. E. I., Paulussen, A. D. C., Coonen, E., Van Golde, R. J. T., Geraedts, J. P. M., Gianaroli, L., Magli, M. C., Zeviani, M., Smeets, H. J. M., & De Die-Smulders, C. E. M. (2017). PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy. Human Reproduction, 32(3), 698-703. https://doi.org/10.1093/humrep/dew356