Reversible optic neuropathy with OPA1 exon 5b mutation.
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.
Cornille
Karen
K
Institut National de la Santé et de la Recherche Médicale U583, Institut des Neurosciences de Montpellier, Université de Montpellier I et II, Montpellier, France.
Milea
Dan
D
Amati-Bonneau
Patrizia
P
Procaccio
Vincent
V
Zazoun
Lydie
L
Guillet
Virginie
V
El Achouri
Ghizlane
G
Delettre
Cécile
C
Gueguen
Naïg
N
Loiseau
Dominique
D
Muller
Agnès
A
Ferré
Marc
M
Chevrollier
Arnaud
A
Wallace
Douglas C
DC
Bonneau
Dominique
D
Hamel
Christian
C
Reynier
Pascal
P
Lenaers
Guy
G
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*
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human