{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T21:39:36Z","timestamp":1789940376797,"version":"4.0.1"},"reference-count":34,"publisher":"Cold Spring Harbor Laboratory","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:p>Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identified based on her clinical phenotype. As part of her evaluation through the Undiagnosed Diseases Network, trio whole-exome sequencing was performed. Pathogenic variants in <jats:italic>FBN1<\/jats:italic> and <jats:italic>TRPS1<\/jats:italic> were identified as causing two distinct autosomal dominant conditions, each with de novo inheritance. Fibrillin 1 (<jats:italic>FBN1)<\/jats:italic> mutations are associated with Marfan syndrome and a spectrum of similar phenotypes. <jats:italic>TRPS1<\/jats:italic> mutations are associated with trichorhinophalangeal syndrome types I and III. Features of both conditions are evident in the patient reported here. Discrepant features of the conditions (e.g., stature) and the young age of the patient may have made a clinical diagnosis more difficult in the absence of exome-wide genetic testing.<\/jats:p>","DOI":"10.1101\/mcs.a001388","type":"journal-article","created":{"date-parts":[[2017,1,3]],"date-time":"2017-01-03T14:40:26Z","timestamp":1483454426000},"page":"a001388","source":"Crossref","is-referenced-by-count":8,"title":["Exome sequencing identifies de novo pathogenic variants in <i>FBN1<\/i> and <i>TRPS1<\/i> in a patient with a complex connective tissue phenotype"],"prefix":"10.1101","volume":"3","author":[{"given":"Diane B.","family":"Zastrow","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia A.","family":"Zornio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annika","family":"Dries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennefer","family":"Kohler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliana","family":"Fernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daryl","family":"Waggott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Walkiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M.","family":"Eng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie A.","family":"Manning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellyn","family":"Farrelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Undiagnosed Diseases Network","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul G.","family":"Fisher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Euan A.","family":"Ashley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan A.","family":"Bernstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8721-3022","authenticated-orcid":false,"given":"Matthew T.","family":"Wheeler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2016,11,11]]},"reference":[{"key":"2021112506114474000_3.1.a001388.1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2011-12-7-r68"},{"key":"2021112506114474000_3.1.a001388.2","first-page":"831","article-title":"FBN1 contributing to familial congenital diaphragmatic hernia","volume":"167A","year":"2015","journal-title":"Am J Med Genet A"},{"key":"2021112506114474000_3.1.a001388.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng.862"},{"key":"2021112506114474000_3.1.a001388.4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00845.x"},{"key":"2021112506114474000_3.1.a001388.5","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005496"},{"key":"2021112506114474000_3.1.a001388.6","unstructured":"Dietz HC . 2014. 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