Article
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Molecular genetics and genomics : MGG - 1 Jul 2021
Xu Xingyu, Wang Panfeng, Jia Xiaoyun, Sun Wenmin, Li Shiqiang, Xiao Xueshan, Hejtmancik J Fielding, Zhang Qingjiong
Abstract excerpt
Autosomal dominant optic atrophy (ADOA) is an important cause of irreversible visual impairment in children and adolescents. About 60-90% of ADOA is caused by the pathogenic variants of OPA1 gene. By evaluating the pathogenicity of OPA1 variants and summarizing the relationship between the genotype and phenotype, this study aimed to provide a reference for clinical genetic test involving OPA1. Variants in OPA1...
Topics
- Adolescent
- Adult
- Case-Control Studies
- Cells, Cultured
- Child
- Child, Preschool
- DNA Mutational Analysis
- Family
- Female
- GTP Phosphohydrolases
- Genetic Association Studies
- Genetic Testing
- Humans
- Male
- Mutation, Missense