{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T20:53:50Z","timestamp":1774385630810,"version":"3.50.1"},"reference-count":31,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T00:00:00Z","timestamp":1774310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012352","name":"Universit\u00c3\u00a0 degli Studi di Milano","doi-asserted-by":"publisher","award":["PSR2025_DIP_035_COZZI"],"award-info":[{"award-number":["PSR2025_DIP_035_COZZI"]}],"id":[{"id":"10.13039\/100012352","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS One"],"abstract":"<jats:p>\n                    Non-epidermolytic ichthyosis (NEI) is a hereditary skin disorder affecting several dog breeds, most notably the Golden Retriever. It is primarily caused by a loss-of-function variant in the\n                    <jats:italic>PNPLA1<\/jats:italic>\n                    gene, while a second, less common form is associated with a deletion in the\n                    <jats:italic>ABHD5<\/jats:italic>\n                    gene. This retrospective study aimed to assess the prevalence and temporal trends of both mutations in Golden Retrievers tested in Italy between 2017 and September 2025. A total of 508 genetic tests were analyzed, including 463 dogs tested for the\n                    <jats:italic>PNPLA1<\/jats:italic>\n                    mutation, 42 for the\n                    <jats:italic>ABHD5<\/jats:italic>\n                    deletion, and 3 for both variants. DNA was extracted from blood or buccal samples and analyzed by real-time PCR followed by confirmatory Sanger sequencing. Among the\n                    <jats:italic>PNPLA1<\/jats:italic>\n                    tested dogs, 42% were clears (wt\/wt), 37% carriers (wt\/mut), and 21% affected (mut\/mut), with calculated allele frequencies of 60% wild-type and 40% mutant. A significant temporal decline in mutant allele frequency was observed, accompanied by an increasing number of animals tested over time, suggesting growing interest in genetic screening and its impact on selective breeding. Conversely, all dogs tested for the\n                    <jats:italic>ABHD5<\/jats:italic>\n                    deletion were wild-type, supporting its rarity in the breed. Overall, these findings confirm that\n                    <jats:italic>PNPLA1<\/jats:italic>\n                    -related ichthyosis remains one of the most prevalent hereditary disorders in Golden Retrievers, although its frequency is decreasing. The results emphasize the effectiveness of genetic testing in disease prevention and highlight the importance of continued monitoring to maintain genetic health within the breed.\n                  <\/jats:p>","DOI":"10.1371\/journal.pone.0345595","type":"journal-article","created":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T17:25:48Z","timestamp":1774373148000},"page":"e0345595","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prevalence and genotypic distribution of non-epidermolytic ichthyosis in Italian Golden Retrievers"],"prefix":"10.1371","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9150-2388","authenticated-orcid":true,"given":"Maria Grazia","family":"De Iorio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0129-0161","authenticated-orcid":true,"given":"Michele","family":"Polli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Ghilardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0327-8844","authenticated-orcid":true,"given":"Stefano","family":"Frattini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mara","family":"Bagardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Paganelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Cristina","family":"Cozzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenza","family":"Seghrouchni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola Giuseppina","family":"Brambilla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulietta","family":"Minozzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2026,3,24]]},"reference":[{"issue":"4","key":"pone.0345595.ref001","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1007361","article-title":"Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs","volume":"14","author":"J Donner","year":"2018","journal-title":"PLoS Genetics"},{"issue":"2","key":"pone.0345595.ref002","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.tvjl.2011.06.017","article-title":"Inbreeding and genetic diversity in dogs: results from DNA analysis","volume":"189","author":"CM Wade","year":"2011","journal-title":"Vet J"},{"issue":"1","key":"pone.0345595.ref003","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1111\/j.1365-2052.2010.02079.x","article-title":"Mating practices and the dissemination of genetic disorders in domestic animals, based on the example of dog breeding","volume":"42","author":"G Leroy","year":"2011","journal-title":"Anim Genet"},{"issue":"11","key":"pone.0345595.ref004","doi-asserted-by":"crossref","first-page":"2331","DOI":"10.1093\/molbev\/msn177","article-title":"The legacy of domestication: accumulation of deleterious mutations in the dog genome","volume":"25","author":"F Cruz","year":"2008","journal-title":"Mol Biol Evol"},{"issue":"1","key":"pone.0345595.ref005","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1093\/gbe\/evy004","article-title":"Elevated proportions of deleterious genetic variation in domestic animals and plants","volume":"10","author":"T Makino","year":"2018","journal-title":"Genome Biology and Evolution"},{"issue":"16","key":"pone.0345595.ref006","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2019116118","article-title":"The impact of identity by descent on fitness and disease in dogs","volume":"118","author":"JA Mooney","year":"2021","journal-title":"Proc Natl Acad Sci U S A"},{"key":"pone.0345595.ref007","first-page":"89","article-title":"Canine ichthyosis and related disorders of cornification. 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