title: Reversible optic neuropathy with OPA1 exon 5b mutation.
abstract: A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. R247H fibroblasts from the patient and his unaffected father presented unusual highly tubular mitochondrial network, significant increased susceptibility to apoptosis, oxidative phosphorylation uncoupling, and altered OPA1 protein profile, supporting the pathogenicity of this mutation. These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described, and that spontaneous recovery may occur in cases harboring an exon 5b mutation.
authors: Institut National de la Santé et de la Recherche Médicale U583, Institut des Neurosciences de Montpellier, Université de Montpellier I et II, Montpellier, France.
authors: Karen
authors: K
authors: Cornille
authors: Dan
authors: D
authors: Milea
authors: Patrizia
authors: P
authors: Amati-Bonneau
authors: Vincent
authors: V
authors: Procaccio
authors: Lydie
authors: L
authors: Zazoun
authors: Virginie
authors: V
authors: Guillet
authors: Ghizlane
authors: G
authors: El Achouri
authors: Cécile
authors: C
authors: Delettre
authors: Naïg
authors: N
authors: Gueguen
authors: Dominique
authors: D
authors: Loiseau
authors: Agnès
authors: A
authors: Muller
authors: Marc
authors: M
authors: Ferré
authors: Arnaud
authors: A
authors: Chevrollier
authors: Douglas C
authors: DC
authors: Wallace
authors: Dominique
authors: D
authors: Bonneau
authors: Christian
authors: C
authors: Hamel
authors: Pascal
authors: P
authors: Reynier
authors: Guy
authors: G
authors: Lenaers
mesh_terms: D000328:Adult; D005091:Exons / Q000235:genetics; D020558:GTP Phosphohydrolases / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D009901:Optic Nerve Diseases / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human