OMIA 001932-9615 : Progressive retinal atrophy, MERTK-related in Canis lupus familiaris
Everson et al. (2017) reported a likely causal variant as "a 6–8 kb insertion in intron 1 of MERTK" with the insertion "comprising a full-length intact LINE-1 retroelement".Clinical features: As summarised by Cooper et al. (2014), "By examining 324 dogs of the Swedish vallhund breed in seven countries and across three continents, we were able to describe a new and unique form of PRA characterized by the multifocal appearance of red and brown discoloration of the tapetal fundus followed over time by thinning of the retina. We propose three stages of the disease based on the appearance of the ocular fundus and associated visual deficits. Electroretinography revealed a gradual loss of both rod and cone photoreceptor-mediated function in Stages 2 and 3 of the disease. In the few dogs that suffered from pronounced vision loss, night-blindness occurred first in late Stage 2, followed by decreased day-vision in Stage 3. Histologic examinations confirmed the loss of photoreceptor cells at Stage 3, which was associated with the accumulation of autofluorescent material in the adjacent retinal pigment epithelium." Breed: Swedish Vallhund. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MERTK||MER proto-oncogene, tyrosine kinase||Canis lupus familiaris||17||NC_006599.3 (36336787..36445796)||MERTK||Homologene, Ensembl, NCBI gene|
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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.
|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|
|Swedish Vallhund||Progressive retinal atrophy, MERTK-related||MERTK||insertion, gross (>20)||CanFam 3.1||17||g.36338043-36338057ins||An insertion of "a full-length [6.401 kb] LINE-1 element comprising the 15 bp target site duplication [indicated by 'ins' in the g. notation], a 5â€™UTR, 900 bp 5â€™ ORF1, a 49 bp intergenic spacer, a 3,828 bp 3â€™ ORF2, a 3â€™UTR and poly(A) tail. The LINE-1 element has been inserted in the same orientation as the MERTK gene.".||2017||28813472||Genomic location provided byÂ Sally Ricketts|
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.
|2017||Everson, R., Pettitt, L., Forman, O.P., Dower-Tylee, O., McLaughlin, B., Ahonen, S., Kaukonen, M., Komáromy, A.M., Lohi, H., Mellersh, C.S., Sansom, J., Ricketts, S.L. :|
|An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs. PLoS One 12:e0183021, 2017. Pubmed reference: 28813472. DOI: 10.1371/journal.pone.0183021.|
|2014||Ahonen, S.J., Arumilli, M., Seppälä, E., Hakosalo, O., Kaukonen, M.K., Komáromy, A.M., Lohi, H. :|
|Increased expression of MERTK is associated with a unique form of canine retinopathy. PLoS One 9:e114552, 2014. Pubmed reference: 25517981. DOI: 10.1371/journal.pone.0114552.|
|Cooper, A.E., Ahonen, S., Rowlan, J.S., Duncan, A., Seppälä, E.H., Vanhapelto, P., Lohi, H., Komáromy, A.M. :|
|A novel form of progressive retinal atrophy in Swedish vallhund dogs. PLoS One 9:e106610, 2014. Pubmed reference: 25198798. DOI: 10.1371/journal.pone.0106610.|
|2013||American College of Veterinary Ophthalmologists, Genetics Committee :|
|Ocular disorders presumed to be inherited in purebred dogs. 6th ed American College of Veterinary Ophthalmologists, Meridian ID :, 2013.|
- Created by Frank Nicholas on 22 Sep 2014
- Changed by Frank Nicholas on 22 Sep 2014
- Changed by Frank Nicholas on 31 Dec 2015
- Changed by Frank Nicholas on 04 Sep 2017