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A mutation in the CEP290 gene is reported in a cat pedigree segregating for autosomal recessive (AR) late-onset photoreceptor degeneration (rdAc).
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Specifications
| Breeds | Oriental, Abyssinian, American Curl, American Shorthair, American Wirehair, Balinese, Bengal, Colorpoint Shorthair, Cornish Rex, Javanese, Munchkin, Ocicat, Savannah, Singapura, Somali, Tonkinese |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
A mutation in the CEP290 gene is reported in a cat pedigree segregating for autosomal recessive (AR) late-onset photoreceptor degeneration (rdAc).
Clinical features
Mutations in CEP290 have recently been shown to cause two human diseases, Joubert syndrome, a syndromic retinal degeneration, and Leber's congenital amaurosis, an AR early-onset retinal dystrophy.
Additional information
References
Pubmed ID: 17507457
Omia ID: 1244
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