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Widespread retinal degenerative disease mutation (rdAc) discovered among a large number of popular cat breeds

  1. Author:
    Menotti-Raymond, M.
    David, V. A.
    Pflueger, S.
    Roelke, M. E.
    Kehler, J.
    O'Brien, S. I.
    Narfstrom, K.

  2. Author Address

    [Menotti-Raymond, M.; Roelke, M. E.] NCI, Lab Genom Divers, SAIC Frederick Inc, Frederick, MD 21702 USA. [Pflueger, S.] Baystate Med Ctr, Springfield, MA 01199 USA. [Narfstrom, K.] Univ Missouri, Coll Vet Med, Dept Vet Med & Surg, Columbia, MO 65211 USA.;Menotti-Raymond, M, NCI, Lab Genom Divers, SAIC Frederick Inc, Frederick, MD 21702 USA.
    1. Year: 2010
    2. Date: Oct
    3. Epub Date: 9/15/2009
  2. Journal: Veterinary Journal
    1. 186
    2. 1
    3. Pages: 32-38
  4. Type of Article: Article
  5. ISSN: 1090-0233
  1. 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 (similar to 33%) in North American and European Siamese populations Clinical evaluations demonstrated high concordance between rdAc pathology and the CEP290 (IV550 + 9T>G) homozygous genotype (P = 1 1E-6) with clinical disease similar to affected Abyssinians/Somalis This retinal degener anon 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 Published by Elsevier Ltd

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External Sources

  1. View Full Text
  2. DOI: 10.1016/j.tvjl.2009.08.010
  3. PMID: 19747862
  4. View record in Web of Science®
  5. WOS: 000284732200008

Library Notes

  1. Fiscal Year: FY2010-2011
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