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

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

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.

Afiliação

Sallevelt SC; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Dreesen JC; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Drüsedau M; Research School for Developmental Biology (GROW), Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands.
Hellebrekers DM; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Paulussen AD; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Coonen E; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
van Golde RJ; Research School for Developmental Biology (GROW), Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands.
Geraedts JP; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Gianaroli L; Department of Obstetrics and Gynecology, Maastricht University Medical Center+ (MUMC+), P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Magli MC; Department of Obstetrics and Gynecology, Maastricht University Medical Center+ (MUMC+), P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Zeviani M; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Smeets HJ; Reproductive Medicine Unit, Società Italiana Studi di Medicina della Riproduzione (S.I.S.Me.R.), Via Mazzini 12, 40138 Bologna, Italy.
de Die-Smulders CE; Reproductive Medicine Unit, Società Italiana Studi di Medicina della Riproduzione (S.I.S.Me.R.), Via Mazzini 12, 40138 Bologna, Italy.

Hum Reprod ; 32(3): 698-703, 2017 03 01.

Article em En | MEDLINE | ID: mdl-28122886

ABSTRACT

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.

Assuntos

DNA Mitocondrial/genética; Doença de Leigh/diagnóstico; Mutação; Feminino; Humanos; Recém-Nascido; Doença de Leigh/genética; Masculino; Mitocôndrias/genética; Linhagem; Gravidez; Diagnóstico Pré-Implantação; Resultado do Tratamento

Palavras-chave

Leigh syndrome; MT-ND6; PGD; T14487C; mitochondrial DNA (mtDNA) mutation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Doença de Leigh / Mutação Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male / Newborn / Pregnancy Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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