OMIA 001977-9615 : Progressive retinal atrophy, CNGA1-related in Canis lupus familiaris |
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.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CNGA1 | cyclic nucleotide gated channel alpha 1 | Canis lupus familiaris | 13 | NC_006595.3 (43864276..43831159) | CNGA1 | Homologene, Ensembl, NCBI gene |
Variants
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Shetland Sheepdog | Progressive retinal atrophy, due to CNGA1 mutations | CNGA1 | deletion, small (<=20) | c.1752_1755delAACT | 2015 | 26202106 |
Reference
| 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. |
Edit History
- Created by Frank Nicholas on 31 Dec 2015
- Changed by Frank Nicholas on 31 Dec 2015