Article
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
PloS one - 1 Jan 2021
Weisschuh Nicole, Schimpf-Linzenbold Simone, Mazzola Pascale, Kieninger Sinja, Xiao Ting, Kellner Ulrich, Neuhann Teresa, Kelbsch Carina, Tonagel Felix, Wilhelm Helmut, Kohl Susanne, Wissinger Bernd
Abstract excerpt
Autosomal dominant optic atrophy is one of the most common inherited optic neuropathies. This disease is genetically heterogeneous, but most cases are due to pathogenic variants in the OPA1 gene: depending on the population studied, 32-90% of cases harbor pathogenic variants in this gene. The aim...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Amino Acid Sequence
- Amino Acid Substitution
- Base Sequence
- Child
- Cohort Studies
- Female
- GTP Phosphohydrolases
- Genetic Predisposition to Disease
- Humans
- Male