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Here we present a novel genetic variant associated with the disease in this particular breed of dog. In a clinical case, a Saluki developed progressive neurological signs, including disorientation, anxiety, difficulties in eating, seizures and loss of vision, and for welfare reasons, was euthanized at 22\u00a0months of age. Microscopy showed aggregation of autofluorescent storage material in the neurons of several brain regions and also in the retina. The aggregates showed positive staining with Sudan black B and periodic acid Schiff, all features consistent with NCL. Whole genome sequencing of the case and both its parents, followed by variant calling in candidate genes, identified a new variant in the <jats:italic>CLN8<\/jats:italic> gene: a single bp insertion (c.349dupT) in exon 2, introducing an immediate stop codon (p.Glu117*). The case was homozygous for the insertion, and both parents were heterozygous. A retrospective study of a Saluki from Australia diagnosed with NCL identified this case as being homozygous for the same mutation. This is the fourth variant identified in <jats:italic>CLN8<\/jats:italic> that causes NCL in dogs.<\/jats:p>","DOI":"10.1111\/age.12629","type":"journal-article","created":{"date-parts":[[2018,2,15]],"date-time":"2018-02-15T04:05:18Z","timestamp":1518667518000},"page":"52-58","source":"Crossref","is-referenced-by-count":17,"title":["Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in <i>CLN8<\/i>"],"prefix":"10.1111","volume":"49","author":[{"given":"F.","family":"Lingaas","sequence":"first","affiliation":[{"name":"Section\u00a0of Genetics Faculty of Veterinary Medicine Norwegian University of Life Sciences P.O. box 8146 Dep, 0033 Oslo Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O\u2010A.","family":"Guttersrud","sequence":"additional","affiliation":[{"name":"Section\u00a0of Genetics Faculty of Veterinary Medicine Norwegian University of Life Sciences P.O. box 8146 Dep, 0033 Oslo Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Arnet","sequence":"additional","affiliation":[{"name":"Section\u00a0of Genetics Faculty of Veterinary Medicine Norwegian University of Life Sciences P.O. box 8146 Dep, 0033 Oslo Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Espenes","sequence":"additional","affiliation":[{"name":"Section\u00a0of Anatomy &amp; Pathology Faculty of Veterinary Medicine Norwegian University of Life Sciences P.O. box 8146 Dep, 0033 Oslo Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,2,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0914206107"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9975(82)90022-6"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.02.016"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.11.005"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1939-1676.2005.tb02657.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.23710"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2011.02.009"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.04.001"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.05.014"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12917-014-0181-z"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.12.007"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.12.038"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/198042"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/jvim.14632"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0047-6374(73)90034-1"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420434"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21624"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2052.1998.295358.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.11.1691"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.05.016"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2005.06.005"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2015.05.011"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0844"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.15654\/TPK-150766"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1939-1676.2008.0079.x"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0606137103"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/13868"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.04.009"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M900122-MCP200"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbs017"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21012"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(02)02154-0"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002304"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fage.12629","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12629","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T20:35:22Z","timestamp":1694291722000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.12629"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2]]},"references-count":35,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1111\/age.12629"],"URL":"https:\/\/doi.org\/10.1111\/age.12629","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2]]}}}