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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
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PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy
Suzanne C E H Sallevelt1, Joseph C F M Dreesen1,2, Marion Drüsedau1
1Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Human Reproduction (Oxford, England)
|January 27, 2017
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.

