OMIA:001297-9615 : Early retinal degeneration in Canis lupus familiaris |
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 615836 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2010
Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)
Species-specific name: Progressive retinal atrophy
Species-specific symbol: erd
Molecular basis: Goldstein et al. (2010): "Fine mapping followed by candidate gene analysis of erd ... established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is predicted to remove much of the N terminus from the translated protein ... ."
Clinical features: As photoreceptor differentiation occurs postnatally in dogs (Goldstein et al., 2010), clinical signs will present from around 3-10 weeks of age. Given the affected type of photoreceptors, reduced night vision and night blindness are a common initial clinical presentation (Acland et al., 1987). Affected animals can present with poor generalised vision. Retinal degeneration will occur rapidly in the first 6 months, and then more gradually thereafter (Berta et al., 2011). Complete loss of vision will be reached at around 12-18 months of age (Acland et al., 1987).
IT thanks DVM student Martina Bai, who provided the basis of this contribution in May 2023.
Pathology:
Postnatal development of the photoreceptors is abnormal, with variations in morphology and function (Acland et al., 1987). Particularly, disparities are seen in the length and alignment of inner and outer segments of adjacent rods (Acland et al., 1987). Photoreceptors in affected dogs will undergo cell division and differentiate into hybrid rod/S-cone photoreceptors. Apoptosis and cell death may also occur (Berta et al., 2011). Rod and cone synapses will fail to develop correctly, eventually leading to retinal degeneration (Goldstein et al., 2010).
IT thanks DVM student Martina Bai, who provided the basis of this contribution in May 2023.
Breed: Norwegian Elkhound.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| STK38L | serine/threonine kinase 38 like | Canis lupus familiaris | 27 | NC_051831.1 (20704954..20624441) | STK38L | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 700 | Norwegian Elkhound | Early retinal degeneration | STK38L | insertion, gross (>20) | Naturally occurring variant | 27 | "a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts" | 2010 | 20887780 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2018 | Léger, H., Santana, E., Leu, N.A., Smith, E.T., Beltran, W.A., Aguirre, G.D., Luca, F.C. : |
| Ndr kinases regulate retinal interneuron proliferation and homeostasis. Sci Rep 8:12544, 2018. Pubmed reference: 30135513 . DOI: 10.1038/s41598-018-30492-9. | |
| 2016 | Palanova, A. : |
| The genetics of inherited retinal disorders in dogs: implications for diagnosis and management. Vet Med (Auckl) 7:41-51, 2016. Pubmed reference: 30050836 . DOI: 10.2147/VMRR.S63537. | |
| 2014 | Genini, S., Guziewicz, K.E., Beltran, W.A., Aguirre, G.D. : |
| Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration. BMC Genomics 15:172, 2014. Pubmed reference: 24581223 . DOI: 10.1186/1471-2164-15-172. | |
| 2013 | Genini, S., Beltran, W.A., Aguirre, G.D. : |
| Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degeneration. PLoS One 8:e85408, 2013. Pubmed reference: 24367709 . DOI: 10.1371/journal.pone.0085408. | |
| 2012 | Miyadera, K., Acland, G.M., Aguirre, G.D. : |
| Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099 . DOI: 10.1007/s00335-011-9361-3. | |
| 2011 | Berta, Á.I., Boesze-Battaglia, K., Genini, S., Goldstein, O., O'Brien, P.J., Szél, Á., Acland, G.M., Beltran, W.A., Aguirre, G.D. : |
| Photoreceptor cell death, proliferation and formation of hybrid rod/S-cone photoreceptors in the degenerating STK38L mutant retina. PLoS One 6:e24074, 2011. Pubmed reference: 21980341 . DOI: 10.1371/journal.pone.0024074. | |
| 2010 | Goldstein, O., Kukekova, A.V., Aguirre, G.D., Acland, G.M. : |
| Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd). Genomics 96:362-8, 2010. Pubmed reference: 20887780 . DOI: 10.1016/j.ygeno.2010.09.003. | |
| 2003 | Kukekova, A.V., Aguirre, G.D., Acland, G.M. : |
| Cloning and characterization of canine SHARP1 and its evaluation as a positional candidate for canine early retinal degeneration (erd) Gene 312:335-43, 2003. Pubmed reference: 12909371 . | |
| 1999 | Acland, G.M., Ray, K., Mellersh, C.S., Langston, A.A., Rine, J., Ostrander, E.A., Aguirre, G.D. : |
| A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration Genomics 59:134-142, 1999. Pubmed reference: 10409424 . DOI: 10.1006/geno.1999.5842. | |
| 1989 | Acland, G.M., Fletcher, R.T., Gentleman, S., Chader, G.J., Aguirre, G.D. : |
| Non-allelism of three genes (rcd1, rcd2, erd) for early-onset hereditary retinal degeneration Experimental Eye Research 49:983-998, 1989. Pubmed reference: 2558906 . | |
| 1987 | Acland, G.M., Aguirre, G. : |
| Retinal degenerations in the dog. IV Early retinal degeneration (erd) in Norwegian elkhounds Experimental Eye Research 44:491-521, 1987. Pubmed reference: 3496233 . |
Edit History
- Created by Frank Nicholas on 02 Nov 2010
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 02 Dec 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Imke Tammen2 on 02 May 2023