{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T10:17:55Z","timestamp":1784542675625,"version":"3.55.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,3,27]],"date-time":"2025-03-27T00:00:00Z","timestamp":1743033600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["310030_200354"],"award-info":[{"award-number":["310030_200354"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Veterinary Dermatology"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a population screening for a newly detected <jats:italic>PNPLA1<\/jats:italic> genomic duplication.<\/jats:p><\/jats:sec><jats:sec><jats:title>Animals<\/jats:title><jats:p>Two 7\u2010year\u2010old male littermates, 531 population samples.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Clinical and histopathological analysis, whole genome sequencing and digital PCR\u2010based genotyping were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Generalised scaling and histological laminar orthokeratotic hyperkeratosis confirmed the ichthyosis diagnosis on Dog 1. Dog 2 showed mild clinical signs possibly associated with allergies and not ichthyosis. The genome of Dog 1 was sequenced and compared to 1469 genetically diverse control genomes. The analysis identified a 6099\u2010bp duplication spanning three internal exons of the PNPLA1 gene, which is predicted to result in an altered C\u2010terminal tail of the protein, NP_001277038.2:p.(E558Lfs*17). Dog 2 had a heterozygous genotype and carried one copy of the duplicated <jats:italic>PNPLA1<\/jats:italic> allele. Of the screened 531 additional Labrador retrievers, 491 were homozygous wild\u2010type, 36 were heterozygous carriers and four carried the duplication in a homozygous state.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions and Clinical Relevance<\/jats:title><jats:p>Previously identified <jats:italic>PNPLA1<\/jats:italic> variants cause autosomal recessive ichthyosis in golden retrievers and humans. Given the well\u2010established function of <jats:italic>PNPLA1<\/jats:italic>, the identified genomic duplication represents a likely candidate causal variant for the observed ichthyosis in the examined Labrador retriever. This is the first report of a new form of autosomal recessive ichthyosis in Labrador retrievers, which provides the basis for genetic testing.<\/jats:p><\/jats:sec>","DOI":"10.1111\/vde.13341","type":"journal-article","created":{"date-parts":[[2025,3,30]],"date-time":"2025-03-30T16:38:57Z","timestamp":1743352737000},"page":"314-320","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Intragenic <i>PNPLA1<\/i> duplication in Labrador retrievers with nonepidermolytic ichthyosis"],"prefix":"10.1111","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0932-552X","authenticated-orcid":false,"given":"Stefan J.","family":"Rietmann","sequence":"first","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty, University of Bern  Bern Switzerland"},{"name":"DermFocus University of Bern  Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7863-9493","authenticated-orcid":false,"given":"Jennifer L.","family":"Clegg","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Medicine College of Veterinary Medicine, University of Illinois at Urbana\u2010Champaign  Urbana Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8155-0041","authenticated-orcid":false,"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty, University of Bern  Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1876-4581","authenticated-orcid":false,"given":"Dominique J.","family":"Wiener","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology College of Veterinary Medicine &amp; Biomedical Science, Texas A&amp;M University  College Station Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica","family":"Kallenberg","sequence":"additional","affiliation":[{"name":"Veterinary Genetics Laboratory School of Veterinary Medicine, University of California  Davis California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Grahn","sequence":"additional","affiliation":[{"name":"Veterinary Genetics Laboratory School of Veterinary Medicine, University of California  Davis California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9455-7867","authenticated-orcid":false,"given":"Clarissa P.","family":"Souza","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Medicine College of Veterinary Medicine, University of Illinois at Urbana\u2010Champaign  Urbana Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-4880","authenticated-orcid":false,"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty, University of Bern  Bern Switzerland"},{"name":"DermFocus University of Bern  Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,3,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1056"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/vde.13033"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/febs.15497"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2013.09.011"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tvjl.2021.105782"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/g3journal\/jkab397"},{"issue":"562","key":"e_1_2_9_8_1","first-page":"9","article-title":"SDR9C7 missense variant in a Chihuahua with non\u2010epidermolytic ichthyosis","volume":"54","author":"Kiener S","year":"2023","journal-title":"Anim Genet"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12834"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1754"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btab051"},{"key":"e_1_2_9_12_1","first-page":"685","article-title":"PNPLA1\u2010mediated acylceramide biosynthesis and autosomal recessive congenital ichthyosis","volume":"12","author":"Zeng F","year":"2022","journal-title":"Meta"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2018.11.005"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2018.09.010"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1748-5827.2009.00730.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1354\/vp.45-2-174"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.3390\/vetsci5020048"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1024\/0036-7281\/a000236"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/vde.12216"}],"container-title":["Veterinary Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/vde.13341","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T03:01:00Z","timestamp":1746673260000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/vde.13341"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,27]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1111\/vde.13341"],"URL":"https:\/\/doi.org\/10.1111\/vde.13341","archive":["Portico"],"relation":{},"ISSN":["0959-4493","1365-3164"],"issn-type":[{"value":"0959-4493","type":"print"},{"value":"1365-3164","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,27]]},"assertion":[{"value":"2024-09-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}