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

6 Citations (Scopus)

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

Fingerprint

Prostaglandins D
Mitochondrial DNA
Leigh Disease
Parturition
Mutation
Genes

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., ... 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

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy. / Sallevelt, Suzanne C.E.H.; Dreesen, Joseph C.F.M.; Drüsedau, Marion; Hellebrekers, Debby M.E.I.; Paulussen, Aimee D.C.; Coonen, Edith; Van Golde, Ronald J.T.; Geraedts, Joep P.M.; Gianaroli, Luca; Magli, Maria C.; Zeviani, Massimo; Smeets, Hubert J.M.; De Die-Smulders, Christine E.M.

In: Human Reproduction, Vol. 32, No. 3, 01.03.2017, p. 698-703.

Research output: Contribution to journalArticle

Sallevelt, SCEH, Dreesen, JCFM, Drüsedau, M, Hellebrekers, DMEI, Paulussen, ADC, Coonen, E, Van Golde, RJT, Geraedts, JPM, Gianaroli, L, Magli, MC, Zeviani, M, Smeets, HJM & De Die-Smulders, CEM 2017, 'PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy', Human Reproduction, vol. 32, no. 3, pp. 698-703. https://doi.org/10.1093/humrep/dew356
Sallevelt SCEH, Dreesen JCFM, Drüsedau M, Hellebrekers DMEI, Paulussen ADC, Coonen E et al. PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy. Human Reproduction. 2017 Mar 1;32(3):698-703. https://doi.org/10.1093/humrep/dew356
Sallevelt, Suzanne C.E.H. ; Dreesen, Joseph C.F.M. ; Drüsedau, Marion ; Hellebrekers, Debby M.E.I. ; Paulussen, Aimee D.C. ; Coonen, Edith ; Van Golde, Ronald J.T. ; Geraedts, Joep P.M. ; Gianaroli, Luca ; Magli, Maria C. ; Zeviani, Massimo ; Smeets, Hubert J.M. ; De Die-Smulders, Christine E.M. / PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy. In: Human Reproduction. 2017 ; Vol. 32, No. 3. pp. 698-703.
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