The OPA1 gene homepage
 A database from the MITOchondrial DYNamics variation portal.
This database is also one of the "Eye disease" gene variant databases.
| General information |
| Gene symbol |
OPA1 |
| Gene name |
optic atrophy 1 (autosomal dominant) |
| Chromosome |
3 |
| Chromosomal band |
q28-q29 |
| Imprinted |
Not imprinted |
| Genomic reference |
LRG_337 |
| Transcript reference |
NM_015560.2, NM_130837.2 |
| Exon/intron information |
NM_015560.2 exon/intron table, NM_130837.2 exon/intron table |
| Associated with diseases |
BEHRS, MTDPS-14, OPA, OPA+, OPA-1, glaucoma, normal tension, susceptibility to |
| Citation reference(s) |
PubMed: Ferre, Hum Mutat (2005), PubMed: Ferre, Hum Mutat (2015), PubMed: Le Roux, Orphanet J Rare Dis (2019) |
| Refseq URL |
Genomic reference sequence |
| Curators (1) |
Marc Ferre |
| Total number of public variants reported |
865 |
| Unique public DNA variants reported |
570 |
| Individuals with public variants |
1208 |
| Hidden variants |
5 |
| Download all this gene's data |
Download all data |
| Notes |
Autosomal dominant optic atrophy (DOA, Kjer type, MIM#165500) is characterized by moderate to severe loss of visual acuity with insidious onset in early childhood, blue-yellow dyschromatopsia and central scotoma. Mutations in the optic atrophy 1 gene (OPA1; MIM#605290) are responsible for about 60-80% of the cases of DOA. The spectrum of OPA1-related disorders is highly variable. The age of onset varies from birth to over 60 years, and the severity of the visual loss ranges from subclinical loss to severe blindness. Estimated disease prevalence is between 1:10,000 in Denmark due to a founder effect and 1:35,000 worldwide. Extra ocular features, involving the central, peripheral and autonomous nervous systems, complicating the optic neuropathy are reported in about 20% of the patients carrying OPA1 pathogenic variants, leading to conditions described as the "DOA plus" or "DOA+" syndromes (MIM#125250). A phenotype fully compatible with the Behr syndrome (MIM#210000), associating early onset and severe optic neuropathy with spinocerebellar ataxia and retarded development was also reported. This variety of phenotypes is attributed to differences in the OPA1 mutations effects (haplo-insufficiency or dominant negative effect), as well as to the mode of inheritance, which may be mono- or more rarely bi-allelic.
A database from the MITOchondrial DYNamics variation portal.
This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. |
| Date created |
November 13, 2003 |
| Date last updated |
November 11, 2020 |
| Version |
OPA1:201111 |
Active transcripts
| Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2003-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.
We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided. |
|
