Dominant (Kjer’s) optic atrophy as sociated with mutations in OPA1 gene

2020 ◽  
Vol 83/116 (1) ◽  
pp. 33-42
Author(s):  
Silvie Kelifová ◽  
Tomáš Honzík ◽  
Markéta Tesařová ◽  
Bohdan Kousal ◽  
Petra Lišková ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Opa1 Gene

scholarly journals A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy

Brain ◽  
2006 ◽  
Vol 130 (4) ◽  
pp. 1029-1042 ◽  
Author(s):  
M. V. Alavi ◽  
S. Bette ◽  
S. Schimpf ◽  
F. Schuettauf ◽  
U. Schraermeyer ◽  
...  
Keyword(s):  
Splice Site ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Opa1 Gene

Dominant Optic Atrophy plus phenotype caused by a deep intronic mutation and a modifier variant in the OPA1 gene

2015 ◽  
Vol 93 ◽  
pp. n/a-n/a
Author(s):  
B. Wissinger ◽  
T. Bonifert ◽  
I. Gonzalez-Menendez ◽  
Y. Theurer ◽  
M. Synofzik ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Intronic Mutation ◽  
Opa1 Gene

A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy

2003 ◽  
Vol 135 (2) ◽  
pp. 256-257 ◽  
Author(s):  
Satoko Shimizu ◽  
Naoki Mori ◽  
Mari Kishi ◽  
Hirohisa Sugata ◽  
Akiko Tsuda ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Japanese Patient ◽  
Novel Mutation ◽  
Opa1 Gene

scholarly journals First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Nicole Weisschuh ◽  
Pascale Mazzola ◽  
Tilman Heinrich ◽  
Tobias Haack ◽  
Bernd Wissinger ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Ganglion Cells ◽  
Visual Fields ◽  
Copy Number Variants ◽  
Retinal Ganglion ◽  
Single Nucleotide ◽  
Case Presentation ◽  
Dominant Optic Atrophy ◽  
Pathogenic Variants ◽  
Opa1 Gene

Abstract Background Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells and their axons that form the optic nerve. Approximately 45–90% of affected individuals with DOA harbor pathogenic variants in the OPA1 gene. The mutation spectrum of OPA1 comprises nonsense, canonical and non-canonical splice site, frameshift and missense as well as copy number variants, but intragenic inversions have not been reported so far. Case presentation We report a 33-year-old male with characteristic clinical features of DOA. Whole-genome sequencing identified a structural variant of 2.4 kb comprising an inversion of 937 bp at the OPA1 locus. Fine mapping of the breakpoints to single nucleotide level revealed that the structural variation was an inversion flanked by two deletions. As this rearrangement inverts the entire first exon of OPA1, it was classified as likely pathogenic. Conclusions We report the first DOA case harboring an inversion in the OPA1 gene. Our study demonstrates that copy-neutral genomic rearrangements have to be considered as a possible cause of disease in DOA cases.

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene

2003 ◽  
Vol 136 (6) ◽  
pp. 1170-1171 ◽  
Author(s):  
Patrizia Amati-Bonneau ◽  
Sylvie Odent ◽  
Christelle Derrien ◽  
Laurent Pasquier ◽  
Yves Malthiéry ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Opa1 Gene

Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy

2017 ◽  
Vol 61 (5) ◽  
pp. 395-401 ◽  
Author(s):  
Takaaki Hayashi ◽  
Hiroyuki Sasano ◽  
Satoshi Katagiri ◽  
Kazushige Tsunoda ◽  
Shuhei Kameya ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Heterozygous Deletion ◽  
Dominant Optic Atrophy ◽  
Opa1 Gene
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