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

TitlePGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.
Publication TypeJournal Article
Year of Publication2017
AuthorsSallevelt, 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
JournalHum Reprod
Volume32
Issue3
Pagination698-703
Date Published2017 Mar 01
ISSN1460-2350
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.

DOI10.1093/humrep/dew356
Alternate JournalHum. Reprod.
Citation Key10.1093/humrep/dew356
PubMed ID28122886
Grant ListMC_UP_1002/1 / / Medical Research Council / United Kingdom