Article
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
American journal of medical genetics. Part A - 1 Jan 2021
D'Gama Alissa M, England Eleina, Madden Jill A, Shi Jiahai, Chao Katherine R, Wojcik Monica H, Torres Alcy R, Tan Wen-Hann, Berry Gerard T, Prabhu Sanjay P, Agrawal Pankaj B
Abstract excerpt
Inherited optic neuropathies (IONs) are neurodegenerative disorders characterized by optic atrophy with or without extraocular manifestations. Optic atrophy-10 (OPA10) is an autosomal recessive ION recently reported to be caused by mutations in RTN4IP1, which encodes reticulon 4 interacting protein 1 (RTN4IP1), a mitochondrial ubiquinol oxydo-reductase. Here we report novel compound heterozygous mutations in...
Topics
- Ataxia
- Carrier Proteins
- Child, Preschool
- Developmental Disabilities
- Epilepsy
- Exome
- Female
- Genetic Predisposition to Disease
- Genetic Testing
- Humans