Successful application of preimplantation genetic diagnosis for Leigh syndrome.
OBJECTIVE
To perform preimplantation genetic diagnosis (PGD) for a SURF1 gene mutation of the Leigh syndrome to transfer unaffected or carrier embryo/embryos.


METHODS
Case report.


METHODS
Clinical IVF laboratory.


METHODS
A couple carrying an nt769 G/A mutation that is associated with Leigh syndrome.


METHODS
Oocytes were fertilized by means of intracytoplasmic sperm injection. The resulting embryos were biopsied 3 days after fertilization. One blastomere was taken and whole-genome amplification was performed. Amplification of the mutation site was achieved by polymerase chain reaction (PCR) and restriction digestion was completed. Gel Imager was used to measure the digests of normal and mutant load.


METHODS
Embryo testing by means of PGD-PCR and pregnancy. Successful preimplantation genetic diagnosis for a SURF1 gene mutation and transfer of healthy or carrier embryos.


RESULTS
Successful singleton pregnancy resulting in the delivery of healthy baby girl.


CONCLUSIONS
We report the first case of successful PGD for Leigh syndrome resulting in delivery of a healthy newborn.
Unsal
Evrim
E
Gen Art Woman Health and Reproductive Biotechnology Center, Ufuk University, Ankara, Turkey. evrim_unsal@yahoo.com
Aktaş
Yasemin
Y
Uner
Ozge
O
BaltacI
Aysun
A
Ozcan
Sarp
S
Turhan
Feriba
F
Baltaci
Volkan
V
D000328:Adult; D010064:Embryo Implantation; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000175:diagnosis* / Q000235:genetics; D050498:Live Birth; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D020554:Sperm Injections, Intracytoplasmic; D016896:Treatment Outcome
D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C092928:Surf-1 protein