Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 106195 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2011

Cross-species summary: This disorder has been previously renamed in OMIA on the basis of the review by Miyadera et al. (2012) and has been more recently renamed from the dog specific name 'Golden Retriever progressive retinal atrophy 1' to a cross-species name [25/11/2022].

Species-specific name: Golden Retriever PRA1, Golden Retriever progressive retinal atrophy 1

Species-specific symbol: GR_PRA1

Mapping: By conducting a GWAS on 27 affected and 19 control Swedish Golden Retrievers, each genotyped with the CanineSNP20 BeadChip (yielding 14,389 informative SNPs for analysis), Downs et al. (2011) mapped this disorder to a region on chromosome CFA37. Subsequent homozygosity mapping narrowed the region to 644kb, which contains 27 genes.

Molecular basis: By sequencing the most likely functional candidate gene from the candidate region (see Mapping section), Downs et al. (2011) identified a causal mutation as "a frame shift mutation [in SLC4A3] caused by the insertion of a single cytosine in exon 16 (c.2601_2602insC; CFA37:29,147,633). It is predicted to cause a premature stop codon in exon 18 (p.E868RfsX104) possibly resulting in degradation of the mRNA by nonsense-mediated decay (NMD) or a truncated protein product". Although this mutation is causal in the families in which it exists, it does not account for all cases of the disorder in this breed.

Breed: Golden Retriever (Dog) (VBO_0200610).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: