{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:00:10Z","timestamp":1790805610063,"version":"4.1.0"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:00:00Z","timestamp":1790726400000},"content-version":"vor","delay-in-days":29,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"PennGen Laboratories and Van Sloun Fund for Canine Genetic Research"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Marfan syndrome (MFS) is a genetic fibrillin disorder causing cardiac, ocular, and musculoskeletal pathology; it is not well reported on in dogs, with minimal descriptions of antemortem diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Hypothesis\/Objectives<\/jats:title>\n                    <jats:p>Use whole-genome sequencing (WGS) to diagnose a dog with suspected MFS to guide prognostication and potential treatment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Animals<\/jats:title>\n                    <jats:p>A client-owned, 10-month-old Golden Retriever presented with signs of possible connective tissue disorder. Blood and DNA samples from a non-affected German Shepherd-Beagle mix and 160 unrelated Golden Retrievers were used as controls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Physical examination, blood collection, and radiography were performed on the dog while at the hospital. Whole-genome sequencing was performed on DNA from the affected dog. Genetic analysis focused on single-nucleotide variants, small insertion\u2013deletions, and structural variants to detect potential disease-causing genetic variants in the genome, prioritizing candidate genes. Polymerase chain reaction amplification and Sanger sequencing of a suspected region were carried out to confirm presence of the candidate pathogenic variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The dog was presented for cardiology consultation and had clinical signs of cardiac enlargement, pneumothorax, and joint hypermobility. After genetic analysis, a 3618 base pair deletion encompassing exon 24 of the FBN1 gene on 1 allele was detected (NC_049251.1:g.14998228_15001846del), likely causing an in-frame deletion in the coding sequence.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions and clinical importance<\/jats:title>\n                    <jats:p>Physical and complementary examination findings are suggestive of MFS and associated with a causal deletion variant.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/jvimsj\/aalag222","type":"journal-article","created":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:26:04Z","timestamp":1790803564000},"source":"Crossref","is-referenced-by-count":0,"title":["Clinical and molecular genetic description of a Marfan-like syndrome in a Golden Retriever puppy"],"prefix":"10.1093","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-1588-4563","authenticated-orcid":false,"given":"Harrison T","family":"Lennertz","sequence":"first","affiliation":[{"name":"School of Veterinary Medicine, University of Pennsylvania , Philadelphia, PA 19104,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0069-5933","authenticated-orcid":false,"given":"Megan E","family":"McClosky","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania , Philadelphia, PA 19104,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0125-1763","authenticated-orcid":false,"given":"Maria del Mar","family":"Fuentes","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, University of Pennsylvania , Philadelphia, PA 19104,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-2637-3507","authenticated-orcid":false,"given":"Jessica K","family":"Niggel","sequence":"additional","affiliation":[{"name":"Sylvia M. 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