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The genetics of these disorders are poorly described in small animal patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Hypothesis\/Objectives<\/jats:title>\n                    <jats:p>Define the clinical manifestations and genetic cause of a suspected form of EDS in a cat.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Animals<\/jats:title>\n                    <jats:p>A 14-week-old male domestic medium hair cat was presented with skin hyperextensibility and fragility. The classic tragic facial expression was observed as well as chronic pruritus and mild hyperesthesia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Blood samples and a skin biopsy sample were collected from the affected cat. Clinical examinations, histology, electron microscopy and whole genome sequencing were conducted to characterize the clinical presentation and identify possible pathogenic DNA variants to support a diagnosis. Criteria defining variant pathogenicity were examined including human disease variant databases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Histology showed sparse, disorganized collagen and an increase in cutaneous mast cells. Electron microscopy identified ultrastructural defects commonly seen in collagen type V alpha 1 chain (COL5A1) variants including flower-like collagen fibrils in cross-section. Whole genome sequencing and comparison with 413 cats in the 99 Lives Cat Genome Sequencing Consortium database identified a novel splice acceptor site variant at exon 4 in COL5A1 (c.501-2A&amp;gt;C).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions and Clinical Importance<\/jats:title>\n                    <jats:p>Our report broadens the current understanding of EDS in veterinary patients and supports the use of precision medicine techniques in clinical veterinary practice. The classification of variants for pathogenicity should be considered in companion animals.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jvim.16805","type":"journal-article","created":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T16:55:08Z","timestamp":1692636908000},"page":"1716-1724","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8607-657X","authenticated-orcid":false,"given":"Abigail","family":"McElroy","sequence":"first","affiliation":[{"name":"Horae Gene Therapy Center, University of Massachusetts Chan Medical School , Worcester, Massachusetts,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Gray-Edwards","sequence":"additional","affiliation":[{"name":"Horae Gene Therapy Center, University of Massachusetts Chan Medical School , Worcester, Massachusetts,","place":["USA"]},{"name":"University of Massachusetts Chan Medical School Department of Radiology, , Worcester, Massachusetts,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyndon M.","family":"Coghill","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Missouri Department of Veterinary Pathobiology, , Columbia, Missouri,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie A.","family":"Lyons","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Missouri Department of Veterinary Medicine & Surgery, , Columbia, Missouri,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,9,1]]},"reference":[{"issue":"5","key":"2026020302594941400_jvim16805-bib-0001","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/ajmg.c.31552","article-title":"The 2017 international classification of the Ehlers-Danlos syndromes","volume":"175","author":"Malfait","year":"2017","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2026020302594941400_jvim16805-bib-0002","first-page":"443","article-title":"Dermatosparaxie (peau d\u00e9chir\u00e9e) chez le veau: un d\u00e9faut g\u00e9n\u00e9ral du tissu conjonctif, de nature h\u00e9r\u00e9ditaire","volume":"65","author":"Hanset","year":"1967","journal-title":"Ann Med Vet"},{"issue":"5","key":"2026020302594941400_jvim16805-bib-0003","first-page":"1256","article-title":"Cutaneous asthenia in a cat, resembling Ehlers-Danlos syndrome in man","volume":"69","author":"Scott","year":"1974","journal-title":"Vet Med Small Anim Clin VM SAC"},{"issue":"5","key":"2026020302594941400_jvim16805-bib-0004","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1186\/s12864-016-3186-0","article-title":"Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7","volume":"17","author":"Leegwater","year":"2016","journal-title":"BMC Genomics"},{"key":"2026020302594941400_jvim16805-bib-0005","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/s12917-015-0318-8","article-title":"Skin malformations in a neonatal foal tested homozygous positive for warmblood fragile foal syndrome","volume":"11","author":"Monthoux","year":"2015","journal-title":"BMC Vet Res"},{"issue":"5","key":"2026020302594941400_jvim16805-bib-0006","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1111\/1523-1747.ep12259079","article-title":"A heritable connective tissue disease of dogs and mink resembling Ehlers-Danlos syndrome of man I. 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