Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613428 (trait) , 613425 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0013263: retinitis pigmentosa 54

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2013

Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)

Species-specific name: progressive retinal atrophy

Species-specific symbol: rcd4

Mapping: Using a GWAS on 16 cases and 22 controls in the Gordon Setter breed, Downs et al. (2013) mapped this disorder to 3.2 Mb region on chromosome CFA17.

Molecular basis: Downs et al. (2013) reported the causal mutation of this type of progressive retinal atrophy in Gordon Setter and Irish Setters as being a frameshift mutation (c.3149_3150insC) in the gene C2orf71 (now called C17H2orf71 or photoreceptor cilium actin regulator, PCARE). However, this mutation does not account for all cases, indicating that there are more causal mutations yet to be discovered. Downs et al. (2014) reported the same likely causal variant in Standard Poodles and Tibetan Terriers. Svensson et al. (2016) reported the same likely causal variant in most (but not all) cases in the Polski Owczarek Nizinny breed. Karlskov-Mortensen et al. (2018) reported the same likely causal variant in the Old Danish Pointing Dog, Miniature Poodles and the Polski Owczarek Podhalanski breed, noting that (given the widespread occurrence in many breeds) the variant must have come into existence prior to the creation of modern dog breeds.

Genetic testing: A DNA test for this disorder is provided by the UK Animal Health Trust. Details are available at: http://www.aht.org.uk/genetics_prarcd4.html

Breeds: Gordon Setter (Dog) (VBO_0200613), Irish Setter (Dog) (VBO_0200702), Old Danish Pointing Dog (Dog) (VBO_0000668), Polish Lowland Sheepdog (Dog) (VBO_0201035), Polish Tatra Sheepdog (Dog) (VBO_0201037), Poodle, Miniature (Dog) (VBO_0201051), Poodle, Standard (Dog) (VBO_0201056), Tibetan Terrier (Dog) (VBO_0201353).
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: