{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:01:14Z","timestamp":1753876874648,"version":"3.41.2"},"reference-count":45,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2023,7,18]],"date-time":"2023-07-18T00:00:00Z","timestamp":1689638400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"publisher","award":["310030_200354"],"award-info":[{"award-number":["310030_200354"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We investigated 4 European domestic shorthair kittens with skin lesions consistent with the dermatosparaxis type of the Ehlers\u2013Danlos syndrome, a connective tissue disorder. The kittens were sired by the same tomcat but were born by 3 different mothers. The kittens had easily torn skin resulting in nonhealing skin wounds. Both clinically and histologically, the skin showed thin epidermis in addition to inflammatory changes. Changes in collagen fibers were visible in electron micrographs. The complete genome of an affected kitten was sequenced. A one base pair duplication leading to a frameshift in the candidate gene ADAMTS2 was identified, p.(Ser235fs*3). All 4 affected cats carried the frameshift duplication in a homozygous state. Genotypes at this variant showed perfect cosegregation with the autosomal recessive Ehlers\u2013Danlos syndrome phenotype in the available family. The mutant allele did not occur in 48 unrelated control cats. ADAMTS2 loss-of-function variants cause autosomal recessive forms of Ehlers\u2013Danlos syndrome in humans, mice, dogs, cattle, and sheep. The available evidence from our investigation together with the functional knowledge on ADAMTS2 in other species allows to classify the identified ADAMTS2 variant as pathogenic and most likely causative variant for the observed Ehlers\u2013Danlos syndrome.<\/jats:p>","DOI":"10.1093\/g3journal\/jkad152","type":"journal-article","created":{"date-parts":[[2023,7,18]],"date-time":"2023-07-18T11:55:35Z","timestamp":1689681335000},"source":"Crossref","is-referenced-by-count":2,"title":["Identification of an <i>ADAMTS2<\/i> frameshift variant in a cat family with Ehlers\u2013Danlos syndrome"],"prefix":"10.1093","volume":"13","author":[{"given":"Rebecca","family":"Simon","sequence":"first","affiliation":[{"name":"Institute of Animal Breeding and Genetics, Justus Liebig University , Giessen 35390 , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Kiener","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty, University of Bern , Bern 3001 , Switzerland"},{"name":"Dermfocus, University of Bern , Bern 3001 , Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nina","family":"Thom","sequence":"additional","affiliation":[{"name":"Small Animal Clinic, Justus Liebig University , Giessen 35392 , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Sch\u00e4fer","sequence":"additional","affiliation":[{"name":"Small Animal Clinic, Justus Liebig University , Giessen 35392 , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janina","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Institute of Veterinary Pathology, Justus Liebig University , Giessen 35392 , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elfi K","family":"Schlohsarczyk","sequence":"additional","affiliation":[{"name":"Institute of Veterinary Pathology, Justus Liebig University , Giessen 35392 , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrich","family":"G\u00e4rtner","sequence":"additional","affiliation":[{"name":"Institute of Anatomy and Cell Biology, Justus Liebig University , Giessen 35385 , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christiane","family":"Herden","sequence":"additional","affiliation":[{"name":"Institute of Veterinary Pathology, Justus Liebig University , Giessen 35392 , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty, University of Bern , Bern 3001 , Switzerland"},{"name":"Dermfocus, University of Bern , Bern 3001 , Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gesine","family":"L\u00fchken","sequence":"additional","affiliation":[{"name":"Institute of Animal Breeding and Genetics, Justus Liebig University , Giessen 35390 , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,7,18]]},"reference":[{"issue":"10","key":"2024022108092632500_jkad152-B1","doi-asserted-by":"publisher","first-page":"731","DOI":"10.3390\/genes10100731","article-title":"Identification of two independent COL5A1 variants in dogs with Ehlers-Danlos syndrome","volume":"10","author":"Bauer","year":"2019","journal-title":"Genes (Basel)."},{"issue":"5","key":"2024022108092632500_jkad152-B2","doi-asserted-by":"publisher","first-page":"706","DOI":"10.2460\/javma.2004.224.706","article-title":"Diaphragmatic and perineal hernias associated with cutaneous asthenia in a cat","volume":"224","author":"Benitah","year":"2004","journal-title":"J Am Vet Med Assoc"},{"issue":"2","key":"2024022108092632500_jkad152-B3","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1016\/S0034-5288(18)33536-7","article-title":"Fragility of the skin in a cat","volume":"19","author":"Butler","year":"1975","journal-title":"Res Vet Sci"},{"key":"2024022108092632500_jkad152-B4","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1186\/s13620-016-0074-5","article-title":"Dermatosparaxis in two limousin calves","volume":"69","author":"Carty","year":"2016","journal-title":"Ir Vet J"},{"issue":"2","key":"2024022108092632500_jkad152-B5","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; 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