{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T12:48:10Z","timestamp":1790081290622,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T00:00:00Z","timestamp":1569888000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["CRSII3_160738\/1"],"award-info":[{"award-number":["CRSII3_160738\/1"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2019,12]]},"abstract":"Summary<\/jats:title>\n \n Congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome in humans is a genodermatosis characterized by inflammatory linear verrucous epidermal nevi (\n ILVEN<\/jats:styled-content>\n ), often showing a striking lateralization pattern. It is caused by variants in the\n \n NSDHL<\/jats:styled-content>\n <\/jats:italic>\n gene encoding a 3\u03b2\u2010hydroxysteroid dehydrogenase involved in the cholesterol biosynthesis pathway. In the present study, we investigated a female Chihuahua, which showed clinical and histological signs of\n ILVEN<\/jats:styled-content>\n . We performed a candidate gene analysis in the affected animal. This analysis revealed a single missense variant in the\n \n NSDHL<\/jats:styled-content>\n <\/jats:italic>\n gene in the affected dog (\n XM<\/jats:styled-content>\n _014111859.2:c.700G>A). The variant is predicted to cause a non\u2010conservative amino acid change from glycine to arginine,\n XP<\/jats:styled-content>\n _013967334.1:p.(Gly234Arg). The mutant allele was absent from WGS data of 594 genetically diverse dogs and eight wolves. Sanger sequencing confirmed that the variant was heterozygous in the affected dog and absent from 22 control Chihuahuas. Based on the knowledge about the functional impact of\n \n NSDHL<\/jats:styled-content>\n <\/jats:italic>\n variants in dogs and other species, c.700G>A is probably pathogenic and a convincing candidate causative variant for the observed skin lesions in the affected Chihuahua.\n <\/jats:p>","DOI":"10.1111\/age.12862","type":"journal-article","created":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T03:35:51Z","timestamp":1569900951000},"page":"768-771","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A missense variant in the\n \n NSDHL<\/scp>\n <\/i>\n gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi"],"prefix":"10.1111","volume":"50","author":[{"given":"F.","family":"Leuthard","sequence":"first","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern 3001 Bern Switzerland"},{"name":"DermFocus University of Bern 3001 Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Lehner","sequence":"additional","affiliation":[{"name":"Kleintierpraxis Lehner Dermatologie 89290 Buch Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8155-0041","authenticated-orcid":false,"given":"V.","family":"Jagannathan","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern 3001 Bern Switzerland"},{"name":"DermFocus University of Bern 3001 Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-4880","authenticated-orcid":false,"given":"T.","family":"Leeb","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern 3001 Bern Switzerland"},{"name":"DermFocus University of Bern 3001 Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Welle","sequence":"additional","affiliation":[{"name":"DermFocus University of Bern 3001 Bern Switzerland"},{"name":"Institute of Animal Pathology Vetsuisse Faculty University of Bern 3001 Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,10]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1534\/g3.117.1124"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38619"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024448"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/vde.12699"},{"key":"e_1_2_3_6_1","unstructured":"Du SouichC. RaymondF.L. GrzeschikK.H.&BoerkoelC.F.(2011)GeneReviews\u00aeNSDHL related disorders. Last Update October 25 2018 available from NCBI Bookshelf at:https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK51754\/"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13636"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M202160200"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cup.12377"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2001.112386"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442399"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2018.2904"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-3164.1998.00079.x"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/9700"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-3164.1992.tb00156.x"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12862","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/age.12862","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12862","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T11:00:02Z","timestamp":1694170802000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.12862"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["10.1111\/age.12862"],"URL":"https:\/\/doi.org\/10.1111\/age.12862","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10]]},"assertion":[{"value":"2019-09-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}