OMIA:001675-61379 : Retinal atrophy - Cone-rod dystrophy 2 in Felis nigripes (black-footed cat) |
In other species: dog
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 609237 (gene) , 609254 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2017
Cross-species summary: This disorder has been named in OMIA on the basis of the review by Miyadera et al. (2012)
Molecular basis: Oh et al (2017); '2 base pair (bp) deletion in exon 13 (c.1282delCT) . . . p.L428*'
Clinical features: Oh et al. (2017); 'The diagnosis of early-onset progressive retinal atrophy (PRA) was supported by reduced direct and consensual pupillary light reflexes, phenotypic presence of retinal degeneration, and a non-recordable electroretinogram with negligible amplitudes in both eyes.'
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| IQCB1 | IQ motif containing B1 | Felis catus | C2 | NC_058376.1 (67431676..67368894) | IQCB1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 962 | Cone-rod dystrophy 2 | IQCB1 | deletion, small (<=20) | Naturally occurring variant | c.1282delCT | p.(L428*) | 2017 | 28322220 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2017). OMIA:001675-61379: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2017 | Oh, A., Pearce, J.W., Gandolfi, B., Creighton, E.K., Suedmeyer, W.K., Selig, M., Bosiack, A.P., Castaner, L.J., Whiting, R.E., Belknap, E.B., Lyons, L.A. : |
| Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes). Sci Rep 7:43918, 2017. Pubmed reference: 28322220. DOI: 10.1038/srep43918. |
Edit History
- Created by Bianca Waud on 24 Mar 2017