{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T23:37:44Z","timestamp":1790206664060,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,5,5]],"date-time":"2016-05-05T00:00:00Z","timestamp":1462406400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>FKBP14<\/jats:italic>\u2010related Ehlers\u2013Danlos syndrome (EDS) is an extremely rare recessive connective tissue disorder described for the first time in 2012 by Baumann and coworkers. The causal gene, <jats:italic>FKBP14<\/jats:italic>, encodes a member of the F506\u2010binding family of peptidyl\u2010prolyl cis\u2010trans isomerases. The paucity of patients described so far makes this disorder poorly defined at clinical level. Here, we report an additional pediatric patient, who is compound heterozygous for a recurrent and a novel <jats:italic>FKBP14<\/jats:italic> mutation, and compare his phenotype with those available in literature. This evaluation confirms that kyphoscoliosis (either progressive or non\u2010progressive), myopathy, joint hypermobility, and congenital hearing loss (sensorineural, conductive, or mixed) are the typical features of the syndrome. Since the patient showed a severe cardiovascular event in childhood and atlantoaxial instability, this report expands the phenotype of the disorder and the allelic repertoire of <jats:italic>FKBP14<\/jats:italic>. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37728","type":"journal-article","created":{"date-parts":[[2016,5,5]],"date-time":"2016-05-05T13:21:11Z","timestamp":1462454471000},"page":"2031-2038","source":"Crossref","is-referenced-by-count":16,"title":["Further delineation of <i>FKBP14<\/i>\u2010related Ehlers\u2013Danlos syndrome: A patient with early vascular complications and non\u2010progressive kyphoscoliosis, and literature review"],"prefix":"10.1002","volume":"170","author":[{"given":"Chiara","family":"Dordoni","sequence":"first","affiliation":[{"name":"Division of Biology and Genetics Department of Molecular and Translational Medicine University of Brescia School of Medicine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Ciaccio","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics Department of Molecular and Translational Medicine University of Brescia School of Medicine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Venturini","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Clinical and Experimental Sciences Spedali Civili University Hospital Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piergiacomo","family":"Calzavara\u2010Pinton","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Clinical and Experimental Sciences Spedali Civili University Hospital Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Ritelli","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics Department of Molecular and Translational Medicine University of Brescia School of Medicine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Colombi","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics Department of Molecular and Translational Medicine University of Brescia School of Medicine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,5,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12414"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.004"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31429"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.2174\/1568026033451862"},{"key":"e_1_2_6_7_1","first-page":"1750","article-title":"FKBP14\u2010related Ehlers\u2013Danlos syndrome: Expansion of the phenotype to include vascular complication","volume":"164","author":"Murray ML","year":"2014","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_8_1","first-page":"6","article-title":"Phenotypic variability of the kyphoscoliotic type of Ehlers\u2013Danlos syndrome (EDS VIA): Clinical, molecular, and biochemical delineation","volume":"23","author":"Rohrbach M","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471221929.ch9"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37728","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37728","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T04:07:30Z","timestamp":1696651650000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37728"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,5]]},"references-count":8,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2016,8]]}},"alternative-id":["10.1002\/ajmg.a.37728"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37728","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,5]]}}}