{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T04:01:41Z","timestamp":1773979301008,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,12,27]],"date-time":"2020-12-27T00:00:00Z","timestamp":1609027200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ehlers\u2010Danlos syndrome (EDS) consists of a heterogeneous group of genetically inherited connective tissue disorders. A family with three affected members over two generations with features of Dermatosparaxic EDS (dEDS) autosomal dominant transmission was reported by Desai et al. and having a heterozygous nonsynonymous missense variant of <jats:italic>ADAMTSL2<\/jats:italic> (c.1261G\u2009&gt;\u2009A; p. Gly421Ser). Variation in this gene is also reported to cause autosomal recessive geleophysic dysplasia. We report five unrelated patients with the Gly421Ser variant identified from a large series of patients presenting with features of connective tissue disorders, each with a positive family history consistent with autosomal dominant transmission. Clinical features of a connective tissue disorder included generalized joint hypermobility and pain with fragility of internal and external tissues including of skin, dura, and arteries. Overall, our analyses including bioinformatics, protein modeling, and gene\u2010protein interactions with the cases described would add evidence for the Gly421Ser variant in <jats:italic>ADAMTSL2<\/jats:italic> as causative for variable expressivity of autosomal dominant connective tissue disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.62030","type":"journal-article","created":{"date-parts":[[2020,12,27]],"date-time":"2020-12-27T09:34:27Z","timestamp":1609061667000},"page":"743-752","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<scp><i>ADAMTSL2<\/i><\/scp> gene variant in patients with features of autosomal dominant connective tissue disorders"],"prefix":"10.1002","volume":"185","author":[{"given":"Jacob","family":"Steinle","sequence":"first","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences University of Kansas Medical Center  Kansas City Kansas 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