OMIA:002282-9615 : Progressive retinal atrophy, PDE6B-related in Canis lupus familiaris |
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 163500 (trait) , 613801 (trait) , 180072 (gene)
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: 2020
Molecular basis: Winkler et al. (2020): "A 6-bp deletion was identified in exon 19 of PDE6B removing two highly conserved amino acids from the enzymatic domain of the PDE6B protein (c.22182223del; p.Phe740_Phe741del). This segregated with the disease status in the small study pedigree."
Clinical features: Winkler et al. (2020): "Fundus images from an affected ~4.5-year-old dog (SWD IIE) showed advanced retinal degeneration typical of PRA, including vascular attenuation and tapetal hyperreflectivity"
Breed: Spanish water dog.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PDE6B | phosphodiesterase 6B, cGMP-specific, rod, beta | Canis lupus familiaris | 3 | NC_051807.1 (92774237..92746064) | PDE6B | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1230 | Spanish water dog | PRA, PDE6B-related | PDE6B | deletion, small (<=20) | Naturally occurring variant | CanFam3.1 | 3 | g.91749865_91749870del | c.2218-2223del | p.(F740_F741del) | NM_001002934.1; NP_001002934.1 | 2020 | 32639685 |
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.
| 2022 | Park, S.A., Rhodes, J., Iwabe, S., Ying, G.S., Pan, W., Huang, J., Komáromy, A.M. : |
| Quantitative and qualitative characterization of retinal dystrophies in canine models of inherited retinal diseases using spectral domain optical coherence tomography (SD-OCT). Exp Eye Res :109106, 2022. Pubmed reference: 35588783 . DOI: 10.1016/j.exer.2022.109106. | |
| 2020 | Winkler, P.A., Ramsey, H.D., Petersen-Jones, S.M. : |
| A novel mutation in PDE6B in Spanish Water Dogs with early-onset progressive retinal atrophy. Vet Ophthalmol :, 2020. Pubmed reference: 32639685 . DOI: 10.1111/vop.12792. |
Edit History
- Created by Frank Nicholas on 19 Jul 2020
- Changed by Frank Nicholas on 19 Jul 2020