OMIA:002646-9615 : Progressive retinal atrophy, GUCY2D-related in Canis lupus familiaris
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 600179 (gene) , 601777 (trait) , 204000 (trait) , 618555 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Species-specific description: Bortolini et al. (2023) "describe the clinical, preliminary electroretinographic and optical coherence tomography features of a newly identified form of progressive retinal atrophy (PRA) in German Spitzes, and identify the causal gene mutation."
Molecular basis: Bortolini et al. (2023): "A mutation was identified in GUCY2D, which segregated with the disease (NM_001003207.1:c.1598_1599insT; p.(Ser534GlufsTer20))."
Clinical features: Bortolini et al. (2023): "Initial fundus changes were pale papilla and mild vascular attenuation. Oscillatory nystagmus was noted in 14 of 16 clinically affected puppies. Vision was impaired under both scotopic and photopic conditions. Rod- mediated ERGs were unrecordable in all affected dogs tested, reduced cone-mediated responses were present in one animal at 3 months of age and unrecordable in the other affected animals tested. Multiple small retinal bullae were observed in three clinically affected animals ... . OCT showed that despite loss of function, retinal structure was initially well-preserved, although a slight retinal thinning developed in older animals with the ventral retina being more severely affected."
Breed: German Spitz.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GUCY2D||guanylate cyclase 2D, membrane (retina-specific)||Canis lupus familiaris||5||NC_051809.1 (32946524..32962026)||GUCY2D||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|
|1536||German Spitz||Progressive retinal atrophy||GUCY2D||insertion, small (<=20)||Naturally occurring variant||CanFam3.1||5||g.32849537_32849538insT||c.1598_1599insT||p.(S534Efs*20)||NM_001003207.1; NP_001003207.1||2023||36872573|
|2023||Bortolini, M., Winkler, P.A., Moreno, J.C.D., Sato, M.T., Guareschi, B.L.V., Petersen-Jones, S.M., Montiani-Ferreira, F. :|
|Preliminary characterization of a novel form of progressive retinal atrophy in the German Spitz dog associated with a frameshift mutation in GUCY2D. Vet Ophthalmol :, 2023. Pubmed reference: 36872573 . DOI: 10.1111/vop.13079.|
- Created by Imke Tammen2 on 09 Mar 2023