{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T16:01:12Z","timestamp":1790524872967,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,2,6]],"date-time":"2022-02-06T00:00:00Z","timestamp":1644105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The genomic region surrounding the <jats:styled-content style=\"fixed-case\"><jats:italic>Tenascin\u2010XB<\/jats:italic><\/jats:styled-content> gene (<jats:styled-content style=\"fixed-case\"><jats:italic>TNXB<\/jats:italic><\/jats:styled-content>) is a complex and duplicated region, with several pseudogenes that predispose to high rates of homologous recombination. Classical\u2010like <jats:styled-content style=\"fixed-case\">Ehlers\u2013Danlos<\/jats:styled-content> syndrome (<jats:styled-content style=\"fixed-case\">clEDS<\/jats:styled-content>) is the result of <jats:styled-content style=\"fixed-case\">tenascin\u2010X<\/jats:styled-content> deficiency due to biallelic loss of function variants in the <jats:styled-content style=\"fixed-case\"><jats:italic>TNXB<\/jats:italic><\/jats:styled-content> gene. Here we present a patient with <jats:styled-content style=\"fixed-case\">clEDS<\/jats:styled-content> and spontaneous pneumothorax, a feature not previously reported to be associated with this condition. Two inherited pathogenic\/likely pathogenic variants were identified; a previously reported deletion resulting in a <jats:italic><jats:styled-content style=\"fixed-case\">TNXA<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">TNXB<\/jats:styled-content><\/jats:italic> chimeric gene and a novel frameshift variant. The <jats:styled-content style=\"fixed-case\"><jats:italic>Tenascin\u2010XB<\/jats:italic><\/jats:styled-content> gene is well described in the literature to be associated with collagen metabolism, stabilization of the fibrillar\u2010collagen matrix and is expressed abundantly in the extracellular matrix. We propose that <jats:styled-content style=\"fixed-case\">tenascin\u2010X<\/jats:styled-content> deficiency is directly related to pneumothorax predisposition. This case expands the phenotypic spectrum of <jats:styled-content style=\"fixed-case\">clEDS<\/jats:styled-content> and highlights the challenges with molecular analysis and diagnosis<\/jats:p>","DOI":"10.1002\/ajmg.a.62674","type":"journal-article","created":{"date-parts":[[2022,2,7]],"date-time":"2022-02-07T06:14:16Z","timestamp":1644214456000},"page":"1583-1588","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Recurrent pneumothorax in a case of t<scp>enascin\u2010X<\/scp> deficient Ehlers\u2013Danlos syndrome: Broadening the phenotypic spectrum"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9825-4938","authenticated-orcid":false,"given":"Renee","family":"Santoreneos","sequence":"first","affiliation":[{"name":"Adult Genetics Unit Royal Adelaide Hospital  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassandra","family":"Vakulin","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; Molecular Pathology SA Pathology  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Ellul","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; Molecular Pathology SA Pathology  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley","family":"Rawlings","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; Molecular Pathology SA Pathology  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tristan","family":"Hardy","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; Molecular Pathology SA Pathology  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Poplawski","sequence":"additional","affiliation":[{"name":"Adult Genetics Unit Royal Adelaide Hospital  Adelaide South Australia Australia"},{"name":"Department of Genetics &amp; 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