title: Widespread retinal degenerative disease mutation (rdAc) discovered among a large number of popular cat breeds.
abstract: The recent discovery of a mutational variant in the CEP290 gene (CEP290: IVS50+9T>G), conferring recessive retinal degeneration in Abyssinian and Somali (long-haired Abyssinian) cats (rdAc) prompted a survey among 41 cat breeds (846 individuals) to assess the incidence, frequency and clinical consequence of rdAc. The rdAc allele displayed widespread distribution, observed in 16/43 (37%) breeds, exhibiting a high allele frequency (∼33%) in North American and European Siamese populations. Clinical evaluations demonstrated high concordance between rdAc pathology and the CEP290 (IVS50+9T>G) homozygous genotype (P=1.1E-6), with clinical disease similar to affected Abyssinians/Somalis. This retinal degeneration has not been reported in breeds other than the Abyssinian/Somali and poses a significant health risk particularly in the Siamese breed group. Alertness of the veterinary community and the present availability of commercial diagnostic testing could synergistically enable breeders to reduce the incidence of rdAc blindness in pure-bred cat populations.
authors.affiliation: Laboratory of Genomic Diversity, National Cancer Institute-Frederick, Frederick, MD 21702, USA. raymond@ncifcrf.gov
authors.forename: M
authors.initials: M
authors.lastname: Menotti-Raymond
authors.forename: V A
authors.initials: VA
authors.lastname: David
authors.forename: S
authors.initials: S
authors.lastname: Pflueger
authors.forename: M E
authors.initials: ME
authors.lastname: Roelke
authors.forename: J
authors.initials: J
authors.lastname: Kehler
authors.forename: S J
authors.initials: SJ
authors.lastname: O'Brien
authors.forename: K
authors.initials: K
authors.lastname: Narfström
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000235:genetics*; D002415:Cats / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D008297:Male; D009154:Mutation; D012162:Retinal Degeneration / Q000235:genetics / Q000662:veterinary*