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.
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
authors.forename: Suzanne C E H
authors.initials: SC
authors.lastname: Sallevelt
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.|Research School for Developmental Biology (GROW), Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands.
authors.forename: Joseph C F M
authors.initials: JC
authors.lastname: Dreesen
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
authors.forename: Marion
authors.initials: M
authors.lastname: Drüsedau
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
authors.forename: Debby M E I
authors.initials: DM
authors.lastname: Hellebrekers
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.|Research School for Developmental Biology (GROW), Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands.
authors.forename: Aimee D C
authors.initials: AD
authors.lastname: Paulussen
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.|Department of Obstetrics and Gynecology, Maastricht University Medical Center+ (MUMC+), P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
authors.forename: Edith
authors.initials: E
authors.lastname: Coonen
authors.affiliation: Department of Obstetrics and Gynecology, Maastricht University Medical Center+ (MUMC+), P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
authors.forename: Ronald J T
authors.initials: RJ
authors.lastname: van Golde
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
authors.forename: Joep P M
authors.initials: JP
authors.lastname: Geraedts
authors.affiliation: Reproductive Medicine Unit, Società Italiana Studi di Medicina della Riproduzione (S.I.S.Me.R.), Via Mazzini 12, 40138 Bologna, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Gianaroli
authors.affiliation: Reproductive Medicine Unit, Società Italiana Studi di Medicina della Riproduzione (S.I.S.Me.R.), Via Mazzini 12, 40138 Bologna, Italy.
authors.forename: Maria C
authors.initials: MC
authors.lastname: Magli
authors.affiliation: Mitochondrial Biology Unit, Wellcome Trust Medical Research Council (MRC), Cambridge Biomedical Campus Hill Road, Cambridge CB2 0XY, UK.|Unit of Molecular Neurogenetics, Istituto Neurologico 'Carlo Besta', Via Giovanni Celoria 11, 20133 Milan, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.|Research School for Developmental Biology (GROW), Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands.
authors.forename: Hubert J M
authors.initials: HJ
authors.lastname: Smeets
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.|Research School for Developmental Biology (GROW), Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands.
authors.forename: Christine E M
authors.initials: CE
authors.lastname: de Die-Smulders
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008928:Mitochondria / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D016896:Treatment Outcome
chemical_list: D004272:DNA, Mitochondrial
keywords: Leigh syndrome; MT-ND6; PGD; T14487C; mitochondrial DNA (mtDNA) mutation