OMIA:001977-9615 : Progressive retinal atrophy, CNGA1-related in Canis lupus familiaris
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613756 (trait) , 123825 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2015
Mapping: As reported by Wiik et al. (2015), "Using genome-wide association with 15 Shetland Sheepdog (Sheltie) cases and 14 controls, we identified a novel PRA locus on CFA13 (Praw = 8.55 × 10(-7) , Pgenome = 1.7 × 10(-4) ). CNGA1, which is known to be involved in human cases of retinitis pigmentosa, was located within the associated region and was considered a likely candidate gene."
Molecular basis: As reported by Wiik et al. (2015), "Sequencing of [the above candidate] gene identified a 4-bp deletion in exon 9 (c.1752_1755delAACT), leading to a frameshift and a premature stop codon". Pedigree analysis indicated that this is a likely causal mutation in some, but not all, Sheltie families.
Breed: Shetland Sheepdog.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CNGA1||cyclic nucleotide gated channel alpha 1||Canis lupus familiaris||13||NC_051817.1 (44464133..44430864)||CNGA1||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|
|547||Shetland Sheepdog||Progressive retinal atrophy, due to CNGA1 mutations||CNGA1||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||13||g.43831897_43831900del||c.1752_1755del||p.(T585Sfs*7)||NM_001003222.1; published as c.1752_1755delAACT||2015||26202106||Genomic and protein coordinates in CanFam3.1 provided by Robert Kuhn|
|2015||Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. :|
|Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21, 2015. Pubmed reference: 26202106 . DOI: 10.1111/age.12323.|
- Changed by Frank Nicholas on 31 Dec 2015
- Created by Frank Nicholas on 31 Dec 2015