{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T22:37:57Z","timestamp":1761863877428,"version":"3.37.3"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,10,2]],"date-time":"2018-10-02T00:00:00Z","timestamp":1538438400000},"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":[[2018,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>X\u2010linked hypohidrotic ectodermal dysplasia (<jats:styled-content style=\"fixed-case\">XLHED<\/jats:styled-content>) is a genetic disease characterized by hypoplasia or absence of hair, teeth and sweat glands. The <jats:italic><jats:styled-content style=\"fixed-case\">EDA<\/jats:styled-content><\/jats:italic> gene, located on the X chromosome, encodes the type <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content> transmembrane protein ectodysplasin A. Variants in the <jats:italic><jats:styled-content style=\"fixed-case\">EDA<\/jats:styled-content><\/jats:italic> gene can lead to <jats:styled-content style=\"fixed-case\">XLHED<\/jats:styled-content> in humans, mice, cattle and dogs. In the present study, we investigated a litter of Dachshund puppies, of which four male puppies showed clinical signs of <jats:styled-content style=\"fixed-case\">XLHED<\/jats:styled-content>. We performed a candidate gene analysis in one affected puppy and several non\u2010affected relatives. This analysis revealed a single base\u2010pair deletion in the coding sequence of the <jats:italic><jats:styled-content style=\"fixed-case\">EDA<\/jats:styled-content><\/jats:italic> gene in the affected puppy (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"DDBJ\/EMBL\/GenBank\" xlink:href=\"NM_001014770.2\">NM_001014770.2<\/jats:ext-link>:c.842delT). The deletion is predicted to cause a frameshift, <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"DDBJ\/EMBL\/GenBank\" xlink:href=\"NP_001014770.1\">NP_001014770.1<\/jats:ext-link>:p.(Leu281HisfsTer22), leading to a premature stop codon which truncates more than one quarter of the <jats:styled-content style=\"fixed-case\">EDA<\/jats:styled-content> protein. Sanger sequencing results confirmed that this variant was inherited from the dam. Based on knowledge about the functional impact of <jats:italic><jats:styled-content style=\"fixed-case\">EDA<\/jats:styled-content><\/jats:italic> variants in dogs and other species, c.842delT is a convincing candidate causative variant for the observed <jats:styled-content style=\"fixed-case\">XLHED<\/jats:styled-content> in the male puppies.<\/jats:p>","DOI":"10.1111\/age.12729","type":"journal-article","created":{"date-parts":[[2018,10,2]],"date-time":"2018-10-02T07:46:53Z","timestamp":1538466413000},"page":"651-654","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["A frameshift variant in the <i><scp>EDA<\/scp><\/i> gene in Dachshunds with X\u2010linked hypohidrotic ectodermal dysplasia"],"prefix":"10.1111","volume":"49","author":[{"given":"S.","family":"Hadji Rasouliha","sequence":"first","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern 3001 Bern Switzerland"},{"name":"DermFocus University of Bern 3001 Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Bauer","sequence":"additional","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern 3001 Bern Switzerland"},{"name":"DermFocus University of Bern 3001 Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Dettwiler","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":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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":[{"role":"author","vocabulary":"crossref"}]},{"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":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,10,2]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-004-2463-4"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/521988"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.5.21.3403"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.182501"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-002-0320-z"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.4238\/2015.August.28.21"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a032862"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0895-409"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530207"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.24.13069"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1534\/g3.116.033225"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5491.523"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fage.12729","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12729","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:33:45Z","timestamp":1694738025000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.12729"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,2]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["10.1111\/age.12729"],"URL":"https:\/\/doi.org\/10.1111\/age.12729","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"type":"print","value":"0268-9146"},{"type":"electronic","value":"1365-2052"}],"subject":[],"published":{"date-parts":[[2018,10,2]]},"assertion":[{"value":"2018-08-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}