OMIA:002198-9615 : Retinal atrophy, progressive, NECAP1-related in Canis lupus familiaris (dog) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611623 (gene) , 615833 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2019
Molecular basis: "Whole genome sequencing of two PRA-affected full-siblings and both unaffected parents" followed by variant "filtering against 568 canine genomes" enabled Hitti et al. (2019) to identify "a single nucleotide variant in the gene encoding NECAP endocytosis associated 1 (NECAP1): c.544G>A (p.Gly182Arg)" as the likely causal variant of this disorder in "Giant Schnauzer (GS) littermates [that] presented with PRA around four years of age".
Prevalence: Hitti et al. (2019): "Five thousand one hundred and thirty canids of 175 breeds, 10 cross-breeds and 3 wolves were genotyped for c.544G>A. Only the three PRA-affected GS were homozygous (allele frequency in GS, excluding proband family = 0.015). In addition, we identified heterozygotes belonging to Spitz and Dachshund varieties, demonstrating c.544G>A segregates in other breeds of German origin. "
Breed:
Giant Schnauzer (Dog) (VBO_0200604).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| NECAP1 | NECAP endocytosis associated 1 | Canis lupus familiaris | 27 | NC_051831.1 (37814521..37826493) | NECAP1 | 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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1083 | Giant Schnauzer (Dog) | Progressive retinal atrophy, NECAP1-related | NECAP1 | missense | Naturally occurring variant | CanFam3.1 | 27 | g.37468611G>A | c.544G>A | p.(G182R) | 2019 | 31117272 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2019). OMIA:002198-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2023 | Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. : |
| Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7. | |
| 2021 | Genetics Committee of the American College of Veterinary Opthalmologists : |
| The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf , 2021. | |
| 2019 | Hitti, R.J., Oliver, J.A.C., Schofield, E.C., Bauer, A., Kaukonen, M., Forman, O.P., Leeb, T., Lohi, H., Burmeister, L.M., Sargan, D., Mellersh, C.S. : |
| Whole genome sequencing of Giant Schnauzer dogs with progressive retinal atrophy establishes NECAP1 as a novel candidate gene for retinal degeneration. Genes (Basel) 10:385, 2019. Pubmed reference: 31117272. DOI: 10.3390/genes10050385. |
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- Created by Frank Nicholas on 25 May 2019