Leber hereditary optic neuropathy
- Phene ID
- 4968
- Name
- Leber hereditary optic neuropathy
- Phene Name
- N/A
- OMIA ID
- 2557
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2019
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1469 | Leber optic neuropathy | 388410003 | 1 | M | m.10432T>C | N/A | N/A |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Cikasto govedo, Slovenia (Cattle) | 1112 | 9913 | http://purl.obolibrary.org/obo/VBO_0005270 |
Novosel et al. (2022): "Maternal inheritance was confirmed by Sanger sequencing, with individuals carrying the T10432C mutation for five generations . . . . The evidence of maternal inheritance of the mutation is even more reliable considering that the presence of the T10432C mutation in [the two mutant animals] Gavtraža and Pirha most likely has the same origin. At the same time, the results of next-generation sequencing and Sanger sequencing . . . show no evidence of heteroplasmy at mitogenome position 10432, confirming that the identified mutation is homoplasmic."
This likely causal variant was first reported by Novosel et al. (2019). Details are provided by Novosel et al. (2022): "In the small local Slovenian cattle breed Cika, we identified (next-generation sequencing) two cows with the T10432C mitogenome mutation in the ND4L gene, which corresponds to the human T10663C mutation known to cause Leber's hereditary optic neuropathy (LHON)"