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

doi:10.1093/humrep/dew356

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 journal › Article › Academic › peer-review

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 language	English
Pages (from-to)	698-703
Number of pages	6
Journal	Human Reproduction
Volume	32
Issue number	3
DOIs	https://doi.org/10.1093/humrep/dew356
Publication status	Published - 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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Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Druesedau, 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

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title = "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.",

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",

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

year = "2017",

month = mar,

doi = "10.1093/humrep/dew356",

language = "English",

volume = "32",

pages = "698--703",

journal = "Human Reproduction",

issn = "0268-1161",

publisher = "Oxford University Press",

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Sallevelt, SCEH, Dreesen, JCFM, Druesedau, 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

TY - JOUR

T1 - PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy

AU - Sallevelt, Suzanne C. E. H.

AU - Dreesen, Joseph C. F. M.

AU - Druesedau, Marion

AU - Hellebrekers, Debby M. E. I.

AU - Paulussen, Aimee D. C.

AU - Coonen, Edith

AU - Van Golde, Ronald J. T.

AU - Geraedts, Joep P. M.

AU - Gianaroli, Luca

AU - Magli, Maria C.

AU - Zeviani, Massimo

AU - Smeets, Hubert J. M.

AU - de Die-Smulders, Christine E. M.

PY - 2017/3

Y1 - 2017/3

N2 - 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.

AB - 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.

KW - PGD

KW - mitochondrial DNA (mtDNA) mutation

KW - T14487C

KW - MT-ND6

KW - Leigh syndrome

KW - PREIMPLANTATION GENETIC DIAGNOSIS

KW - COMPLEX-I DEFICIENCY

KW - LEIGH-SYNDROME

KW - ND6 GENE

KW - T14487C MUTATION

KW - MTDNA MUTATIONS

KW - PATIENT

KW - M.14487T-GREATER-THAN-C

KW - SEGREGATION

KW - DISORDERS

U2 - 10.1093/humrep/dew356

DO - 10.1093/humrep/dew356

M3 - Article

C2 - 28122886

SN - 0268-1161

VL - 32

SP - 698

EP - 703

JO - Human Reproduction

JF - Human Reproduction

IS - 3

ER -

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

Abstract

Keywords

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