Summary
Variants in both nuclear and mitochondrial (mtDNA) genes cause optic atrophy. We investigated the effectiveness of comprehensive panel testing-including nuclear and mtDNA genes, non-coding variants and CNVs-in 633 patients with optic atrophy. Key findings included the following
- 27% of patients received a positive result
- No signigicant difference between children and adults, but women were more likely than men to have positive results
- 80% of positive results were explained by four genes: OPA1, WFS1, MT- ND6, MT-ND4
- Variants in mtDNA genes accounted for 20.4% of the positive results in the cohort
- Noncoding variants and CNVs together accounted for 7.1% of the positive results
Comprehensive genetic testing captures a broad spectrum of genetic causes of OA and highlights the importance of including mtDNA analysis in the testing. Nearly one-third of patients may benefit from advanced genetic testing.
Authors:
Sari Tuupanen, Kimberly Gall, Julie Hathaway, Collanus Vattulainen, Sanna Merkkiniemi, Katja Kämpjärvi, Kati von Nandelstadh, Pernilla Kurtz, Lisa Catherine, Bai Shaochun, Mikko Muona, Tuuli Pietilä, Pertteli Salmenperä, Inka Saarinen, Ray Veeraraghavan, Samuel Myllykangas, Juha Koskenvuo