{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T14:16:09Z","timestamp":1788617769030,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T00:00:00Z","timestamp":1764028800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100014866","name":"Herberger Institute for Design and the Arts","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014866","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Gangliosidoses are inherited lysosomal storage disorders characterised by neuronal accumulation of gangliosides. While GM1 gangliosidosis has been reported in cattle, GM2 gangliosidosis has yet to be. We investigated a herd of Angus cattle with progressive neurological signs, including blindness, ataxia and lethargy. Histopathology revealed widespread neuronal vacuolation, and electron microscopy identified laminated cytoplasmic bodies consistent with ganglioside accumulation. Whole\u2010genome sequencing of an affected calf identified a homozygous frameshift variant in the\n                    <jats:italic>HEXA<\/jats:italic>\n                    gene (NC_037337.1:g.19269480_19269481delinsGGAGT, NM_001075164.2: c.(834_835delinsACTCC)), absent from 18 control genomes and 1842 individuals in the 1000 Bull Genomes Project. The variant was confirmed in homozygous form in all four affected animals by Sanger sequencing and meets multiple criteria for pathogenicity. These findings support a diagnosis of GM2 gangliosidosis type I, representing the first report in cattle and enabling development of a diagnostic test for carrier screening and herd management.\n                  <\/jats:p>","DOI":"10.1111\/age.70059","type":"journal-article","created":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T00:28:38Z","timestamp":1764116918000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel\n                    <i>HEXA<\/i>\n                    frameshift mutation identified in Angus cattle with\n                    <scp>GM<\/scp>\n                    2 gangliosidosis"],"prefix":"10.1111","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8249-634X","authenticated-orcid":false,"given":"K. L. M.","family":"Eager","sequence":"first","affiliation":[{"name":"Elizabeth Macarthur Agricultural Institute NSW Department of Primary Industries and Regional Development  Menangle New South Wales Australia"},{"name":"Faculty of Science, Sydney School of Veterinary Science University of Sydney  Camden New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. E.","family":"Willet","sequence":"additional","affiliation":[{"name":"Sydney Informatics Hub University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Davis","sequence":"additional","affiliation":[{"name":"Forrest Farm Vets  Busselton Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Forshaw","sequence":"additional","affiliation":[{"name":"Department of Primary Industries and Regional Development Diagnostic Laboratory Services  Albany Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Last","sequence":"additional","affiliation":[{"name":"Department of Primary Industries and Regional Development Diagnostic Laboratory Services  South Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Pinczowski","sequence":"additional","affiliation":[{"name":"Elizabeth Macarthur Agricultural Institute NSW Department of Primary Industries and Regional Development  Menangle New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5520-6597","authenticated-orcid":false,"given":"I.","family":"Tammen","sequence":"additional","affiliation":[{"name":"Faculty of Science, Sydney School of Veterinary Science University of Sydney  Camden New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. A.","family":"O'Rourke","sequence":"additional","affiliation":[{"name":"Elizabeth Macarthur Agricultural Institute NSW Department of Primary Industries and Regional Development  Menangle New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,11,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fvets.2024.1497817"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.2174\/1566523218666180404162622"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/9780813810379.ch27"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12974-020-01947-6"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1711110305"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.3800634"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-animal-020518-115024"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12917-016-0691-y"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_6_13_1","doi-asserted-by":"crossref","unstructured":"Nicholas F. Tammen I.&Sydney Informatics Hub. (2025)Online Mendelian Inheritance in Animals (OMIA). 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