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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<jats:italic>IQ calmodulin-binding motif-containing protein-1 (IQCB1<\/jats:italic>), 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<jats:italic>IQCB1<\/jats:italic>and avoidance of matings between carriers should be added to the species survival plan for captive management.<\/jats:p>","DOI":"10.1038\/srep43918","type":"journal-article","created":{"date-parts":[[2017,3,21]],"date-time":"2017-03-21T10:22:07Z","timestamp":1490091727000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes)"],"prefix":"10.1038","volume":"7","author":[{"given":"Annie","family":"Oh","sequence":"first","affiliation":[]},{"given":"Jacqueline W.","family":"Pearce","sequence":"additional","affiliation":[]},{"given":"Barbara","family":"Gandolfi","sequence":"additional","affiliation":[]},{"given":"Erica K.","family":"Creighton","sequence":"additional","affiliation":[]},{"given":"William K.","family":"Suedmeyer","sequence":"additional","affiliation":[]},{"given":"Michael","family":"Selig","sequence":"additional","affiliation":[]},{"given":"Ann P.","family":"Bosiack","sequence":"additional","affiliation":[]},{"given":"Leilani J.","family":"Castaner","sequence":"additional","affiliation":[]},{"given":"Rebecca E. 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The error has not been fixed in the paper.","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 May 2018","order":7,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Erratum","order":8,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Scientific Reports 7: Article number: 43918; published online: 21 March 2017; updated: 18 May 2018 The Acknowledgements section in this Article is incomplete. \u201cFunding was provided by The University of Missouri, College of Veterinary Medicine Clinician Scientist Grant 2014 (JWP). Funding for the 99 Lives Cat Genome Sequencing Initiative has been provided by the Winn Feline Foundation and the George Sydney and Phyllis Redman Miller Trust (MT\u201313\u2013010), the National Geographic Society Education Foundation (2P-14), the University of Missouri Gilbreath-McLorn Endowment (LAL), contributions from the 99 Lives Consortium participants, donations from Associazione Nazionale Felina Italiana (ANFI), Zoetis, Orivet Genetic Pet Care, Langford Veterinary Services, the World Cat Federation, and public donations.","order":9,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing financial interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"43918"}}