OMIA 002095-9615 : Epilepsy, generalized myoclonic, with photosensitivity in Canis lupus familiaris |
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2017
Molecular basis:
Wielaender et al. (2017): "a 4-bp deletion in the exon 2 of the DIRAS1 gene (c.564_567delAGAC . . . CanFam3 . . . , resulting in a frameshift and a stop loss. . . . The genotyping of the DIRAS1 deletion in 14 clinically verified RR cases and 26 controls revealed a homozygous mutant genotype in all cases, a heterozygous genotype in the obligate carriers, and the homozygous wild-type genotype in controls."
Breed:
Rhodesian Ridgeback.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| DIRAS1 | DIRAS family, GTP-binding RAS-like 1 | Canis lupus familiaris | 20 | NC_006602.3 (56469283..56477314) | DIRAS1 | Homologene, Ensembl, NCBI gene |
Variants
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Rhodesian Ridgeback | Epilepsy, generalized myoclonic, with photosensitivity | DIRAS1 | deletion, small (<=20) | CanFam3.1 | c.564_567delAGAC | 2017 | 28223533 |
Reference
| 2017 | Wielaender, F., Sarviaho, R., James, F., Hytönen, M.K., Cortez, M.A., Kluger, G., Koskinen, L.L., Arumilli, M., Kornberg, M., Bathen-Noethen, A., Tipold, A., Rentmeister, K., Bhatti, S.F., Hülsmeyer, V., Boettcher, I.C., Tästensen, C., Flegel, T., Dietschi, E., Leeb, T., Matiasek, K., Fischer, A., Lohi, H. : | |
| Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1. Proc Natl Acad Sci U S A 114:2669-2674, 2017. Pubmed reference: 28223533. DOI: 10.1073/pnas.1614478114. |
Edit History
- Created by Frank Nicholas on 23 Feb 2017
- Changed by Frank Nicholas on 23 Feb 2017