Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.

Détails

ID Serval
serval:BIB_3F7EA64DA5D6
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Périodique
Journal of Medical Genetics
Auteur(s)
Lebon S., Chol M., Benit P., Mugnier C., Chretien D., Giurgea I., Kern I., Girardin E., Hertz-Pannier L., de Lonlay P., Rötig A., Rustin P., Munnich A.
ISSN
1468-6244[electronic]
Statut éditorial
Publié
Date de publication
2003
Volume
40
Numéro
12
Pages
896-899
Langue
anglais
Résumé
Starting from a cohort of 50 NADH-oxidoreductase (complex I) deficient patients, we carried out the systematic sequence analysis of all mitochondrially encoded complex I subunits (ND1 to ND6 and ND4L) in affected tissues. This approach yielded the unexpectedly high rate of 20% mutation identification in our series. Recurrent heteroplasmic mutations included two hitherto unreported (T10158C and T14487C) and three previously reported mutations (T10191C, T12706C and A13514G) in children with Leigh or Leigh-like encephalopathy. The recurrent mutations consistently involved T-->C transitions (p<10(-4)). This study supports the view that an efficient molecular screening should be based on an accurate identification of respiratory chain enzyme deficiency.
Mots-clé
Adolescent, Adult, Child, Child, Preschool, DNA Mutational Analysis, DNA, Mitochondrial/genetics, Electron Transport Complex I/genetics, Female, Humans, Infant, Leigh Disease/genetics, Male, Mutation
Pubmed
Web of science
Open Access
Oui
Création de la notice
12/01/2010 10:55
Dernière modification de la notice
08/05/2019 17:33
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