In other species: dog

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611755 (trait) , 610189 (trait) , 610142 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2007

Species-specific name: Late-onset photoreceptor degeneration

Species-specific symbol: rdAc

Molecular basis: Menotti-Raymond et al. (2007) reported a causal mutation: "A single-nucleotide polymorphism was characterized in intron 50 of CEP290 (IVS50 + 9T>G) that creates a strong canonical splice donor site, resulting in a 4-bp insertion and frameshift in the mRNA transcript, with subsequent introduction of a stop codon and premature truncation of the protein."

Clinical features: Minella et al. (2022) reported that "The comparably milder phenotype of CEP290 mutant cats [compared with human patients with CEP290 mutations] is likely due to the retained production of some full-length CEP290 protein with possible functional contributions from presence of truncated protein [in cats homozygous for the splicing variant listed below (OMIA variant 384)]."

Prevalence: Narfström et al. (2009): "A population genetic survey revealed that the rdAc allele is in moderate abundance in the Abyssinian breed in Europe and Australia. Surprisingly, homozygosity for the mutant allele was observed in a Siamese cat with ophthalmoscopic findings similar to those originally described for affected rdAc individuals." Menotti-Raymond et al. (2010) surveyed "41 cat breeds (846 individuals) to assess the incidence, frequency and clinical consequence of rdAc. The rdAc allele [OMIA variant 384] displayed widespread distribution, observed in 16/43 (37%) breeds, exhibiting a high allele frequency (∼33%) in North American and European Siamese populations." The cat sequenced to generate the Felis_catus_9.0 reference genome is homozygous for this variant.

Breeds: Abyssinian (Cat) (VBO_0100000), American Curl (Cat) (VBO_0100007), American Shorthair (Cat) (VBO_0100018), American Wirehair (Cat) (VBO_0100021), Balinese (Cat) (VBO_0100036), Bengal (Cat) (VBO_0100040), Colorpoint Shorthair (Cat) (VBO_0100074), Cornish Rex (Cat) (VBO_0100077), Devon Rex (Cat) (VBO_0100084), Donskoy (Cat) (VBO_0100086), European Shorthair (Cat) (VBO_0100094), Havana (Cat) (VBO_0100108), Highlander (Cat) (VBO_0100114), Maine Coon (Cat) (VBO_0100154), Manx (Cat) (VBO_0100156), Munchkin (Cat) (VBO_0100169), Ocicat (Cat) (VBO_0100179), Oriental Longhair (Cat) (VBO_0100183), Oriental Shorthair (Cat) (VBO_0100184), Peterbald (Cat) (VBO_0100189), Pixiebob Longhair (Cat) (VBO_0100192), Ragdoll (Cat) (VBO_0100196), Savannah (Cat) (VBO_0100208), Scottish Fold (Cat) (VBO_0100209), Siamese (Cat) (VBO_0100221), Singapura (Cat) (VBO_0100224), Somali (Cat) (VBO_0100229), Sphynx (Cat) (VBO_0100230), Tennessee Rex (Cat) (VBO_0100234), Tonkinese (Cat) (VBO_0100241).
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: