OMIA 002282-9615 : Progressive retinal atrophy, PDE6B-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 163500 (trait) , 613801 (trait) , 180072 (gene)

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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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