Abstract：
:African black-footed cats (Felis nigripes) are endangered wild felids. One male and full-sibling female African black-footed cat developed vision deficits and mydriasis as early as 3 months of age. The diagnosis of early-onset progressive retinal atrophy (PRA) was supported by reduced direct and consensual pupillary light reflexes, phenotypic presence of retinal degeneration, and a non-recordable electroretinogram with negligible amplitudes in both eyes. Whole genome sequencing, conducted on two unaffected parents and one affected offspring was compared to a variant database from 51 domestic cats and a Pallas cat, revealed 50 candidate variants that segregated concordantly with the PRA phenotype. Testing in additional affected cats confirmed that cats homozygous for a 2 base pair (bp) deletion within IQ calmodulin-binding motif-containing protein-1 (IQCB1), the gene that encodes for nephrocystin-5 (NPHP5), had vision loss. The variant segregated concordantly in other related individuals within the pedigree supporting the identification of a recessively inherited early-onset feline PRA. Analysis of the black-footed cat studbook suggests additional captive cats are at risk. Genetic testing for IQCB1 and avoidance of matings between carriers should be added to the species survival plan for captive management.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Oh A,Pearce JW,Gandolfi B,Creighton EK,Suedmeyer WK,Selig M,Bosiack AP,Castaner LJ,Whiting RE,Belknap EB,Lyons LA,99 Lives Consortium.doi
10.1038/srep43918subject
Has Abstractpub_date
2017-03-21 00:00:00pages
43918issn
2045-2322pii
srep43918journal_volume
7pub_type
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