{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T10:47:17Z","timestamp":1767178037832,"version":"build-2238731810"},"reference-count":63,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T00:00:00Z","timestamp":1620086400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"British Association of Veterinary Ophthalmologists","award":["1000"],"award-info":[{"award-number":["1000"]}]},{"name":"Kennel Club Charitable Trust"},{"name":"Kennel Club Charitable Trust"},{"name":"Kennel Club Charitable Trust"},{"DOI":"10.13039\/100007612","name":"Animal Health Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007612","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007612","name":"Animal Health Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007612","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\">\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>Three related male English Cocker Spaniels (ECS) were reported to be congenitally blind. Examination of one of these revealed complete retinal detachment. A presumptive diagnosis of retinal dysplasia (RD) was provided and pedigree analysis was suggestive of an X-linked mode of inheritance. We sought to investigate the genetic basis of RD in this family of ECS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Following whole genome sequencing (WGS) of the one remaining male RD-affected ECS, two distinct investigative approaches were employed: a candidate gene approach and a whole genome approach. In the candidate gene approach,\n                      <jats:italic>COL9A2<\/jats:italic>\n                      ,\n                      <jats:italic>COL9A3<\/jats:italic>\n                      ,\n                      <jats:italic>NHEJ1<\/jats:italic>\n                      ,\n                      <jats:italic>RS1<\/jats:italic>\n                      and\n                      <jats:italic>NDP<\/jats:italic>\n                      genes were investigated based on their known associations with RD and retinal detachment in dogs and humans. In the whole genome approach, affected WGS was compared with 814 unaffected canids to identify candidate variants, which were filtered based on appropriate segregation and predicted pathogenic effects followed by subsequent investigation of gene function. Candidate variants were tested for appropriate segregation in the ECS family and association with disease was assessed using samples from a total of 180 ECS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The same variant in\n                      <jats:italic>NDP<\/jats:italic>\n                      (c.653_654insC, p.Met114Hisfs*16) that was predicted to result in 15 aberrant amino acids before a premature stop in norrin protein, was identified independently by both approaches and was shown to segregate appropriately within the ECS family. Association of this variant with X-linked RD was significant (P = 0.0056).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      For the first time, we report a variant associated with canine X-linked RD.\n                      <jats:italic>NDP<\/jats:italic>\n                      variants are already known to cause X-linked RD, along with other abnormalities, in human Norrie disease. Thus, the dog may serve as a useful large animal model for research.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1371\/journal.pone.0251071","type":"journal-article","created":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T12:34:58Z","timestamp":1620218098000},"page":"e0251071","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog"],"prefix":"10.1371","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4189-308X","authenticated-orcid":true,"given":"Hannah","family":"Joyce","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise M.","family":"Burmeister","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hattie","family":"Wright","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorraine","family":"Fleming","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James A. 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