Disease Detail Information

OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2013

Species-specific name: progressive retinal atrophy

Species-specific symbol: rcd4

More detail information can see in

Associated Breeds

iDog Breed Number	Breed Name	Personality	Height	Weight	History	Breed Source
CB117	Gordon Setter		61-68.6 cm (male), 58.4-66 cm (female)	24.9-36.3 kg (male), 20.4-31.8 kg (female)		United Kingdom (Scotland)
CB131	Irish Setter		68.6 cm (male), 63.5 cm (female)	31.8 kg (male), 27.2 kg (female)		Ireland

Associated Gene

Symbol	Description	Species	Position	Other Links
C17H2orf71	chromosome 17 open reading frame, human C2orf71	Canis lupus familiaris	Chr17 : 23473219 - 23461566	Homologene, Ensembl, NCBI gene

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.

2019	Lewis,T.W.,Mellersh,C.S.: : Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864, 2019. Pubmed reference: 30650096 . DOI: 10.1371/journal.pone.0209864 .
2018	Karlskov-Mortensen,P.,Proschowsky,H.F.,Gao,F.,Fredholm,M.: : Identification of the mutation causing progressive retinal atrophy in Old Danish Pointing Dog. Anim Genet 49:237-241, 2018. Pubmed reference: 29624701 . DOI: 10.1111/age.12659 .
2016	Svensson,M.,Olsén,L.,Winkler,P.A.,Petersen-Jones,S.M.,Bergström,T.,Garncarz,Y.,Narfström,K.: : Progressive retinal atrophy in the Polski Owczarek Nizinny dog: a clinical and genetic study. Vet Ophthalmol 19:195-205, 2016. Pubmed reference: 26009980 . DOI: 10.1111/vop.12284 .
2014	Downs,L.M.,Hitti,R.,Pregnolato,S.,Mellersh,C.S.: : Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds. Vet Ophthalmol 17:126-30, 2014. Pubmed reference: 24255994 . DOI: 10.1111/vop.12122 .
2013	Downs,L.M.,Bell,J.S.,Freeman,J.,Hartley,C.,Hayward,L.J.,Mellersh,C.S.: : Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet 44:169-77, 2013. Pubmed reference: 22686255 . DOI: 10.1111/j.1365-2052.2012.02379.x .
2012	Miyadera,K.,Acland,G.M.,Aguirre,G.D.: : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099 . DOI: 10.1007/s00335-011-9361-3 .
2011	[Noauthorslisted]: : Inherited disease: new DNA test to help detect PRA mutation in Gordon setters. Vet Rec 168:175, 2011. Pubmed reference: 21493523 . DOI: 10.1136/vr.d1014 .