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

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

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.

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Veröffentlicht in:Human reproduction (Oxford) 2017-03, Vol.32 (3), p.698-703
Hauptverfasser: 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.
Format: Artikel
Sprache:eng
Schlagworte:
DNA, Mitochondrial - genetics
Female
Humans
Infant, Newborn
Leigh Disease - diagnosis
Leigh Disease - genetics
Male
Mitochondria - genetics
Mutation
Pedigree
Pregnancy
Preimplantation Diagnosis
Treatment Outcome
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Zusammenfassung: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.
ISSN:0268-1161
1460-2350
DOI:10.1093/humrep/dew356