OMIA 002469-9685 : Retinopathy, RDH5-related in Felis catus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601617 (gene) , 136880 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Probably Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2021

Species-specific description: Occelli et al. (2021) “present a new domestic cat model [of macular atrophy] with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val).”

Clinical features: Occelli et al. (2021) “affected cats have a marked delay in recovery of dark adaptation. Additionally, the cats develop a degeneration of the area centralis (equivalent to the human macula). … There is notable variability in the age at onset of the area centralis changes in the cat, with most developing changes as juveniles but some not showing changes over the first few years of age."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) Felis catus B4 NC_058374.1 (82296879..82301544) RDH5 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
1377 Retinopathy RDH5 missense Naturally occurring variant B4 c.542G>T p.(G181V) 2021 34726233

Reference


2021 Occelli, L.M., Daruwalla, A., De Silva, S.R., Winkler, P.A., Sun, K., Pasmanter, N., Minella, A., Querubin, J., Lyons, L.A., Consortium, L., Robson, A.G., Heon, E., Michaelides, M., Webster, A.R., Palczewski, K., Vincent, A., Mahroo, O.A., Kiser, P.D., Petersen-Jones, S.M. :
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype. Hum Mol Genet :, 2021. Pubmed reference: 34726233. DOI: 10.1093/hmg/ddab316.

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  • Created by Imke Tammen2 on 04 Nov 2021