{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T18:49:30Z","timestamp":1774291770538,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T00:00:00Z","timestamp":1689120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015735","name":"Helsinki Institute of Life Science, Helsingin Yliopisto","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015735","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004012","name":"Jane ja Aatos Erkon S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004012","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hemophilia A is the most common inherited coagulation factor disorder in dogs. It manifests as excessive bleeding resulting from pathogenic variants in the X\u2010chromosomal<jats:italic>F8<\/jats:italic>gene encoding coagulation factor VIII (FVIII) protein. In this study, we performed careful clinical phenotyping to confirm hemophilia A in two distinct Labrador Retriever (LR) pedigrees. Whole\u2010genome sequencing on an affected dog from litter 1 identified a case\u2010specific frameshift deletion variant in<jats:italic>F8<\/jats:italic>predicted to cause a premature stop codon (c.2923_2924del, p.(E975Kfs*8)). This variant was hemizygous in all the affected males from litter 1 (<jats:italic>n<\/jats:italic>\u2009=\u20093), while all the unaffected LRs in the pedigree were heterozygous or wild\u2010type (<jats:italic>n<\/jats:italic>\u2009=\u200922). Additionally, screened samples from 199 LRs were all found to be wild\u2010type. As a result of this study, a gene test can now be developed to screen dogs before breeding to prevent further cases. However, it is important to note that the affected LR with decreased FVIII activity from litter 2 was wild\u2010type for the identified deletion variant, and no segregating<jats:italic>F8<\/jats:italic>variants were detected when this dog's DNA sample was whole\u2010genome sequenced. Thus, the cause of decreased FVIII activity in this dog remains to be unraveled in future studies.<\/jats:p>","DOI":"10.1111\/age.13345","type":"journal-article","created":{"date-parts":[[2023,7,13]],"date-time":"2023-07-13T05:49:19Z","timestamp":1689227359000},"page":"606-612","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A frameshift deletion in<i>F8<\/i>associated with hemophilia A in Labrador Retriever dogs"],"prefix":"10.1111","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1976-5874","authenticated-orcid":false,"given":"Marjo K.","family":"Hyt\u00f6nen","sequence":"first","affiliation":[{"name":"Department of Veterinary Biosciences University of Helsinki Helsinki Finland"},{"name":"Department of Medical and Clinical Genetics University of Helsinki Helsinki Finland"},{"name":"Folkh\u00e4lsan Research Center Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanna","family":"Viitanen","sequence":"additional","affiliation":[{"name":"Department of Equine and Small Animal Medicine University of Helsinki Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sruthi","family":"Hundi","sequence":"additional","affiliation":[{"name":"Department of Veterinary Biosciences University of Helsinki Helsinki Finland"},{"name":"Department of Medical and Clinical Genetics University of Helsinki Helsinki Finland"},{"name":"Folkh\u00e4lsan Research Center Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonas","family":"Donner","sequence":"additional","affiliation":[{"name":"Wisdom Panel Research Team Wisdom Panel, Kinship Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannes","family":"Lohi","sequence":"additional","affiliation":[{"name":"Department of Veterinary Biosciences University of Helsinki Helsinki Finland"},{"name":"Department of Medical and Clinical Genetics University of Helsinki Helsinki Finland"},{"name":"Folkh\u00e4lsan Research Center Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2146-4694","authenticated-orcid":false,"given":"Maria","family":"Kaukonen","sequence":"additional","affiliation":[{"name":"Department of Veterinary Biosciences University of Helsinki Helsinki Finland"},{"name":"Department of Medical and Clinical Genetics University of Helsinki Helsinki Finland"},{"name":"Folkh\u00e4lsan Research Center Helsinki 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