OMIA 002179-9615 : Stargardt disease 1 in Canis lupus familiaris
Ekesten et al. (2022) studied "retinal appearance and morphology in Labrador retrievers (LRs) heterozygous and homozygous for an ABCA4 loss-of-function mutation. ... Abnormal appearance and morphology in the fovea equivalent are present in juvenile ABCA4InsC/InsC. In the older affected LRs, the visual streak and then the peripheral retina also develop an abnormal appearance. Vision deteriorates slowly, but some vision is retained throughout life. Older heterozygotes may show a mild retinal phenotype but no obvious visual impairment."Breed: Labrador Retriever. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ABCA4||ATP-binding cassette, sub-family A (ABC1), member 4||Canis lupus familiaris||6||NC_051810.1 (55434279..55561973)||ABCA4||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.
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|
|1050||Labrador Retriever||Stargardt disease 1||ABCA4||insertion, small (<=20)||Naturally occurring variant||CanFam3.1||6||g.55146556dup||c.4176dup||p.(F1393Lfs*3)||Mäkeläinen et al. (2019): "ENSCAFT00000005367 exon28 4170dupC* V1390fs" Importantly, the same authors also explain in Table S3 that "*The insertion is found in a cytosine mononucleotide-repeat region [55,146,550–55,146,556] and it is arbitrary at what position the actual insertion occurs. In the text we have denoted the insertion as c.4176insC, p.F1393Lfs*1395)." Variant information changed to reflect HGVS nomenclature||2019||30889179|
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.
|2022||Ekesten, B., Mäkeläinen, S., Ellis, S., Kjellström, U., Bergström, T.F. :|
|Abnormal appearance of the area centralis in Labrador Retrievers with an ABCA4 loss-of-function mutation. Transl Vis Sci Technol 11:36, 2022. Pubmed reference: 35201338. DOI: 10.1167/tvst.11.2.36.|
|2019||Mäkeläinen, S., Gòdia, M., Hellsand, M., Viluma, A., Hahn, D., Makdoumi, K., Zeiss, C.J., Mellersh, C., Ricketts, S.L., Narfström, K., Hallböök, F., Ekesten, B., Andersson, G., Bergström, T.F. :|
|An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. PLoS Genet 15:e1007873, 2019. Pubmed reference: 30889179. DOI: 10.1371/journal.pgen.1007873.|
|2010||Zangerl, B., Lindauer, S.J., Acland, G.M., Aguirre, G.D. :|
|Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies. Mol Genet Genomics 284:243-50, 2010. Pubmed reference: 20661590.|
|2006||Lippmann, T., Pasternack, S.M., Kraczyk, B., Dudek, S.E., Dekomien, G. :|
|Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs. J Negat Results Biomed 5:19, 2006. Pubmed reference: 17134500. DOI: 10.1186/1477-5751-5-19.|
|2004||Kijas, J.W., Zangerl, B., Miller, B., Nelson, J., Kirkness, E.F., Aguirre, G.D., Acland, G.M. :|
|Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. Mol Vis 10:223-32, 2004. Pubmed reference: 15064680.|
- Created by Frank Nicholas on 25 Mar 2019
- Changed by Frank Nicholas on 25 Mar 2019
- Changed by Imke Tammen2 on 11 Sep 2022