{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T23:37:50Z","timestamp":1790206670371,"version":"4.1.0"},"reference-count":16,"publisher":"Cold Spring Harbor Laboratory","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:p>Hereditary connective tissue disorders have overlapping phenotypes, particularly in regard to musculoskeletal features. This contributes to the challenge of phenotype-based clinical diagnoses. However, some hereditary connective tissue disorders have distinct cardiovascular manifestations that require early intervention and specific management. Molecular testing has increased the ability to categorize and diagnose distinct hereditary connective tissue disorders. A 42-yr-old female with a clinical diagnosis of Larsen syndrome from birth presented for genetic testing based on her recent diagnosis of premenopausal breast cancer. She had a past medical history of multiple carotid dissections. As she never had confirmatory molecular genetic testing for Larsen syndrome, whole-exome sequencing was utilized to assess both hereditary cancer predisposition syndromes and connective tissue disorders. A homozygous pathogenic variant in the<jats:italic>FKBP14<\/jats:italic>gene was identified associated with<jats:italic>FKBP14<\/jats:italic>kyphoscoliotic Ehlers\u2013Danlos syndrome. We recommend that patients with a clinical diagnosis of Larsen syndrome undergo broad-based molecular sequencing for multiple hereditary connective tissue disorders. Molecular diagnosis is particularly crucial for all individuals who have a history of significant vascular events in the setting of a clinical diagnosis only. Early diagnosis of a hereditary connective tissue disorder with vascular features allows for screening and subsequent prevention of cardiovascular events.<\/jats:p>","DOI":"10.1101\/mcs.a006281","type":"journal-article","created":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T19:35:21Z","timestamp":1689104121000},"page":"a006281","source":"Crossref","is-referenced-by-count":2,"title":["<i>FKBP14<\/i>kyphoscoliotic Ehlers\u2013Danlos syndrome misdiagnosed as Larsen syndrome: a case report"],"prefix":"10.1101","volume":"9","author":[{"given":"Amy","family":"Wiegand","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rama","family":"Kastury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arpita","family":"Neogi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arya","family":"Mani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allen","family":"Bale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Cox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2023,7,11]]},"reference":[{"key":"2023071112351447000_9.3.a006281.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.004"},{"key":"2023071112351447000_9.3.a006281.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.043687"},{"key":"2023071112351447000_9.3.a006281.3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31550"},{"key":"2023071112351447000_9.3.a006281.4","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.138"},{"key":"2023071112351447000_9.3.a006281.5","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.70"},{"key":"2023071112351447000_9.3.a006281.6","doi-asserted-by":"publisher","DOI":"10.1007\/s40291-021-00541-7"},{"key":"2023071112351447000_9.3.a006281.7","doi-asserted-by":"publisher","DOI":"10.1542\/peds.71.6.942"},{"key":"2023071112351447000_9.3.a006281.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(50)80268-8"},{"key":"2023071112351447000_9.3.a006281.9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1812033"},{"key":"2023071112351447000_9.3.a006281.10","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181e074f0"},{"key":"2023071112351447000_9.3.a006281.11","unstructured":"National Center for Biotechnology Information. ClinVar; [VCV000279809.44], https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000279809.44"},{"key":"2023071112351447000_9.3.a006281.12","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0671-0"},{"key":"2023071112351447000_9.3.a006281.13","doi-asserted-by":"publisher","DOI":"10.3390\/genes11050547"},{"key":"2023071112351447000_9.3.a006281.14","first-page":"e274","article-title":"FKBP14 kyphoscoliotic Ehlers\u2013Danlos syndrome in adolescent patient: the first Colombian report","volume":"117","year":"2019","journal-title":"Arch Argent Pediatr"},{"key":"2023071112351447000_9.3.a006281.15","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0401-x"},{"key":"2023071112351447000_9.3.a006281.16","unstructured":"U.S. National Library of Medicine. 2022. RS542489955 RefSNP report - dbSNP - NCBI. 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