{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T16:55:21Z","timestamp":1770224121757,"version":"3.49.0"},"reference-count":32,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,9,23]],"date-time":"2018-09-23T00:00:00Z","timestamp":1537660800000},"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","award":["CRSII3_160738\/1"],"award-info":[{"award-number":["CRSII3_160738\/1"]}],"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":[[2018,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Ehlers\u2010Danlos syndrome (<jats:styled-content style=\"fixed-case\">EDS<\/jats:styled-content>) is a group of heritable connective tissue disorders caused by defective collagen synthesis or incorrect assembly of the collagen triple helical structure. <jats:styled-content style=\"fixed-case\">EDS<\/jats:styled-content> is characterised by joint hypermobility, skin hyperextensibility, abnormal scarring, poor wound healing and tissue friability. Human <jats:styled-content style=\"fixed-case\">EDS<\/jats:styled-content> may be caused by variants in several different genes including <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>5A1<\/jats:italic>, which encodes the collagen type V alpha 1 chain. For the present study we investigated a 1.5\u2010year\u2010old, spayed female, domestic shorthair cat with <jats:styled-content style=\"fixed-case\">EDS<\/jats:styled-content>. The affected cat showed multiple recurrent skin tears, hyperextensibility of the skin and joint abnormalities. We obtained whole genome sequencing data from the affected cat and searched for variants in candidate genes known to cause <jats:styled-content style=\"fixed-case\">EDS<\/jats:styled-content>. We detected a heterozygous single base\u2010pair deletion in exon 43 of the <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>5A1<\/jats:italic> gene, namely c.3420delG. The deletion was predicted to result in a frameshift and premature stop codon: p.(Leu1141SerfsTer134). Sanger sequencing confirmed that the variant was present in the affected cat and absent from 103 unaffected cats from different breeds. The variant was also absent from a Burmese cat with <jats:styled-content style=\"fixed-case\">EDS<\/jats:styled-content>. Based on knowledge about the functional impact of <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>5A1<\/jats:italic> variants in other species, <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>5A1<\/jats:italic>:c.3420delG represents a compelling candidate causative variant for the observed <jats:styled-content style=\"fixed-case\">EDS<\/jats:styled-content> in the affected cat.<\/jats:p>","DOI":"10.1111\/age.12727","type":"journal-article","created":{"date-parts":[[2018,9,24]],"date-time":"2018-09-24T05:19:30Z","timestamp":1537766370000},"page":"641-644","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["A frameshift variant in the <i><scp>COL<\/scp>5A1<\/i> gene in a cat with Ehlers\u2010Danlos syndrome"],"prefix":"10.1111","volume":"49","author":[{"given":"M.","family":"Spycher","sequence":"first","affiliation":[{"name":"Institute of Genetics 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