{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:43:22Z","timestamp":1787013802570,"version":"build-2736575974"},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,2,18]],"date-time":"2020-02-18T00:00:00Z","timestamp":1581984000000},"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","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":[[2020,6]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    The pulmonary hypoplasia and anasarca syndrome (PHA) is a congenital lethal disorder, which until now has been reported in cattle and sheep. PHA is characterized by extensive subcutaneous fetal edema combined with hypoplasia or aplasia of the lungs and dysplasia of the lymphatic system. PHA is assumed to be of genetic etiology. This study presents the occurrence of PHA in two different cattle breeds and their genetic causation. Two PHA cases from one sire were observed in Slovenian Cika cattle. Under the assumption of monogenic inheritance, genome\u2010wide homozygosity mapping scaled down the critical regions to 3% of the bovine genome including a 43.6\u00a0Mb\u2010sized segment on chromosome 6. Whole\u2010genome sequencing of one case, variant filtering against controls and genotyping of a larger cohort of Cika cattle led to the detection of a likely pathogenic protein\u2010changing variant perfectly associated with the disease: a missense variant on chromosome 6 in\n                    <jats:italic>ADAMTS3<\/jats:italic>\n                    (NM_001192797.1: c.1222C&gt;T), which affects an evolutionary conserved residue (NP_001179726.1: p.(His408Tyr)). A single PHA case was found in Danish Holstein cattle and was whole\u2010genome sequenced along with its parents. However, as there was no plausible private protein\u2010changing variant, mining for structural variation revealed a likely pathogenic trisomy of the entire chromosome 20. The identified\n                    <jats:italic>ADAMTS3<\/jats:italic>\n                    associated missense variant and the trisomy 20 are two different genetic causes, which shows a compelling genetic heterogeneity for bovine PHA.\n                  <\/jats:p>","DOI":"10.1111\/age.12923","type":"journal-article","created":{"date-parts":[[2020,2,18]],"date-time":"2020-02-18T18:41:57Z","timestamp":1582051317000},"page":"382-390","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Identification of small and large genomic candidate variants in bovine pulmonary hypoplasia and anasarca syndrome"],"prefix":"10.1111","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5648-963X","authenticated-orcid":false,"given":"I. M.","family":"H\u00e4fliger","sequence":"first","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9470-4284","authenticated-orcid":false,"given":"N.","family":"Wiedemar","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5469-9273","authenticated-orcid":false,"given":"T.","family":"\u0160vara","sequence":"additional","affiliation":[{"name":"Veterinary Faculty University of Ljubljana Ljubljana 1000 Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5156-5277","authenticated-orcid":false,"given":"J.","family":"Stari\u010d","sequence":"additional","affiliation":[{"name":"Veterinary Faculty University of Ljubljana Ljubljana 1000 Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Cociancich","sequence":"additional","affiliation":[{"name":"Veterinary Faculty University of Ljubljana Ljubljana 1000 Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"\u0160est","sequence":"additional","affiliation":[{"name":"Veterinary Faculty University of Ljubljana Ljubljana 1000 Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Gomba\u010d","sequence":"additional","affiliation":[{"name":"Veterinary Faculty University of Ljubljana Ljubljana 1000 Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Paller","sequence":"additional","affiliation":[{"name":"Veterinary Faculty University of Ljubljana Ljubljana 1000 Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1653-4552","authenticated-orcid":false,"given":"J. 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