Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/wiley/sporadic-optic-atrophy-due-to-synonymous-codon-change-altering-mrna-YaB0HEdpAE
References (8)
-
C. Delettre, G. Lenaers, J. Griffoin, N. Gigarel, Corinne Lorenzo, P. Belenguer, L. Pelloquin, J. Grosgeorge, C. Turc‐Carel, E. Perret, C. Astarie-Dequeker, Laetitia Lasquellec, B. Arnaud, B. Ducommun, J. Kaplan, C. Hamel (2000)
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophyNature Genetics, 26
-
C. Alexander, M. Votruba, U. Pesch, D. Thiselton, S. Mayer, A. Moore, M. Rodríguez, U. Kellner, B. Leo-Kottler, G. Auburger, S. Bhattacharya, B. Wissinger (2000)
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28Nature Genetics, 26
-
P. Kjer (1959)
Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families.Acta ophthalmologica. Supplementum, 164 Supp 54
-
C. Delettre, J. Griffoin, J. Kaplan, H. Dollfus, B. Lorenz, L. Faivre, G. Lenaers, P. Belenguer, C. Hamel (2001)
Mutation spectrum and splicing variants in the OPA1 geneHuman Genetics, 109
-
Kjer (1959)
Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish familiesActa Ophthalmol Scand, 37
-
P. Amati‐Bonneau, S. Odent, Christelle Derrien, L. Pasquier, Y. Malthiéry, P. Reynier, D. Bonneau (2003)
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.American journal of ophthalmology, 136 6
-
F. Pagani, F. Baralle (2004)
Genomic variants in exons and introns: identifying the splicing spoilersNature Reviews Genetics, 5
-
Olivier Baris, C. Delettre, P. Amati‐Bonneau, M. Surget, J. Charlin, A. Catier, L. Derieux, J. Guyomard, H. Dollfus, P. Jonveaux, C. Ayuso, I. Maumenee, B. Lorenz, S. Mohammed, Y. Tourmen, D. Bonneau, Y. Malthiéry, C. Hamel, P. Reynier (2003)
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophyHuman Mutation, 21
- Publisher
- Wiley
- Copyright
- Blackwell Munksgaard, 2004
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- DOI
- 10.1111/j.1399-0004.2004.00358.x
- pmid
- 15617556
- Publisher site
- See Article on Publisher Site
Abstract
To the Editor: Autosomal dominant optic atrophy (ADOA, OMIM 165500) is the most frequent form of hereditary optic atrophy first described by Kjer ( 1 ). This disease is, generally, characterized by the progressive decrease of visual acuity first appearing in childhood, loss of sensitivity in the central visual field (central, paracentral or coecocentral scotomas), optic nerve pallor and dyschromatopsia often predominating in the blue-yellow hues (tritanopia). Mutations in the OPA1 gene, located on chromosome 3q28–q29 and which codes for a mitochondrial dynamin-related GTPase, are found in about 60% of patients affected with ADOA ( 2–4 ). We report, in this study, a sporadic case of progressive optic atrophy caused by a de novo heterozygous c.1770G > C variant in exon 18 of the OPA1 gene. This mutation was absent in 400 chromosome controls, but it did not modify the corresponding amino acid (R590R) of the protein. The pathogenicity of this new mutation was demonstrated at the mRNA level. Cloning and sequencing of the transcriptional product showed a frameshift caused by the entire exon 18 skipping. <h1>Patients and methods</h1> The patient, a 19-year-old French man, was affected with progressive bilateral optic atrophy, initially diagnosed at age 6. There
Journal
Clinical Genetics – Wiley
Published: Jan 1, 2005