Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

Rahma Felhi; Lamia Sfaihi; Majida Charif; Valérie Desquiret-Dumas; Céline Bris; David Goudenège; Leila Ammar-Keskes; Mongia Hachicha; Dominique Bonneau; Vincent Procaccio; Pascal Reynier; Patrizia Amati-Bonneau; Guy Lenaers; Faiza Fakhfakh

doi:10.1016/j.cca.2018.11.003

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Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

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Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

Rahma Felhi, Lamia Sfaihi, Majida Charif, Valérie Desquiret-Dumas, Céline Bris, David Goudenège, Leila Ammar-Keskes, Mongia Hachicha, Dominique Bonneau, Vincent Procaccio, …

Clinica Chimica Acta, Vol.488, pp.104-110

01/2019

DOI: https://doi.org/10.1016/j.cca.2018.11.003

PMID: 30395865

Résumé

POLG

OPA1

MNGIE

Pathogenic variants

mtDNA depletion

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Titre: Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion
Créateurs - sans rôle: Rahma Felhi - University of Sfax
Lamia Sfaihi - Hopital Universitaire Hedi Chaker
Majida Charif - Centre National de la Recherche Scientifique
Valérie Desquiret-Dumas - Centre National de la Recherche Scientifique
Céline Bris - Inserm
David Goudenège - Inserm
Leila Ammar-Keskes
Mongia Hachicha - Hopital Universitaire Hedi Chaker
Dominique Bonneau - Inserm
Vincent Procaccio - Université d'Angers
Pascal Reynier - Université d'Angers
Patrizia Amati-Bonneau - Inserm
Guy Lenaers - Centre National de la Recherche Scientifique
Faiza Fakhfakh - University of Sfax
Détails de publication: Clinica Chimica Acta, Vol.488, pp.104-110
Note de subvention: This work was supported by the Ministry of Higher Education and Scientific Research in Tunisia, University of Sfax. We acknowledge the support from the Institut National de la Santé et de la Recherche Médicale (INSERM), France; Centre National de la Recherche Scientifique (CNRS), France; the Université d'Angers, the University Hospital of Angers, the Région Pays de Loire and Angers Loire Métropole, France.
Identifiants: 99153520209311
Unité académique: Université de Montpellier
Langue: English
Type de ressource: Journal article
Champs locaux: hal-02388222