The detail information of Progressive retinal atrophy, X-linked, type 2
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: yes

Year key mutation first reported: 2002

Species-specific name: -

Species-specific symbol: XLPRA2

More detail information can see in

Associated Breeds
There are associated breeds.
Associated Gene
Symbol Description Species Position Other Links
RPGR retinitis pigmentosa GTPase regulator Canis lupus familiaris ChrX : 33156658 - 33082215 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.
2020 Appelbaum,T.,Santana,E.,Aguirre,G.D.: :
Critical Decrease in the Level of Axon Guidance Receptor ROBO1 in Rod Synaptic Terminals Is Followed by Axon Retraction. Invest Ophthalmol Vis Sci 61:11, 2020.
Pubmed reference: 32176262 . DOI: 10.1167/iovs.61.3.11 .
2020 Dufour,V.L.L.,Cideciyan,A.V.,Ye,G.J.,Song,C.,Timmers,A.,Habecker,P.,Pan,W.,Weinstein,N.,Swider,M.,Durham,A.,Ying,G.S.,Robinson,P.,Jacobson,S.,Knop,D.R.,Chulay,J.D.,Shearman,M.S.,Aguirre,G.,Beltran,W.: :
Toxicity and Efficacy Evaluation of an AAV Vector Expressing Codon-Optimized RPGR Delivered by Subretinal Injection in a Canine Model of X-linked Retinitis Pigmentosa. Hum Gene Ther :, 2020.
Pubmed reference: 31910043 . DOI: 10.1089/hum.2019.297 .
2020 Switonski,M.: :
Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet :, 2020.
Pubmed reference: 32189222 . DOI: 10.1007/s13353-020-00554-8 .
2017 Sudharsan,R.,Beiting,D.P.,Aguirre,G.D.,Beltran,W.A.: :
Involvement of Innate Immune System in Late Stages of Inherited Photoreceptor Degeneration. Sci Rep 7:17897, 2017.
Pubmed reference: 29263354 . DOI: 10.1038/s41598-017-18236-7 .
2014 Genini,S.,Guziewicz,K.E.,Beltran,W.A.,Aguirre,G.D.: :
Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration. BMC Genomics 15:172, 2014.
Pubmed reference: 24581223 . DOI: 10.1186/1471-2164-15-172 .
2013 Genini,S.,Beltran,W.A.,Aguirre,G.D.: :
Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degeneration. PLoS One 8:e85408, 2013.
Pubmed reference: 24367709 . DOI: 10.1371/journal.pone.0085408 .
2012 Beltran,W.A.,Cideciyan,A.V.,Lewin,A.S.,Iwabe,S.,Khanna,H.,Sumaroka,A.,Chiodo,V.A.,Fajardo,D.S.,Román,A.J.,Deng,W.T.,Swider,M.,Alemán,T.S.,Boye,S.L.,Genini,S.,Swaroop,A.,Hauswirth,W.W.,Jacobson,S.G.,Aguirre,G.D.: :
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A 109:2132-7, 2012.
Pubmed reference: 22308428 . DOI: 10.1073/pnas.1118847109 .
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 .
2010 Genini,S.,Zangerl,B.,Slavik,J.,Acland,GM.,Beltran,WA.,Aguirre,GD.: :
Transcriptional Profile Analysis of RPGRORF15 Frameshift Mutation Identifies Novel Genes Associated with Retinal Degeneration. Invest Ophthalmol Vis Sci 51:6038-50, 2010.
Pubmed reference: 20574030 . DOI: 10.1167/iovs.10-5443 .
2007 Zangerl,B.,Johnson,J.L.,Acland,G.M.,Aguirre,G.D.: :
Independent origin and restricted distribution of RPGR deletions causing XLPRA. J Hered 98:526-30, 2007.
Pubmed reference: 17646274 . DOI: 10.1093/jhered/esm060 .
2006 Beltran,WA.,Hammond,P.,Acland,GM.,Aguirre,GD.: :
A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci 47:1669-81, 2006.
Pubmed reference: 16565408 . DOI: 10.1167/iovs.05-0845 .
2002 Zhang,Q.,Acland,GM.,Wu,WX.,Johnson,JL.,Pearce-Kelling,S.,Tulloch,B.,Vervoort,R.,Wright,AF.,Aguirre,GD.: :
Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet 11:993-1003, 2002.
Pubmed reference: 11978759 .