{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T19:49:02Z","timestamp":1792180142120,"version":"4.4.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,10,30]],"date-time":"2019-10-30T00:00:00Z","timestamp":1572393600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,10,30]],"date-time":"2019-10-30T00:00:00Z","timestamp":1572393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Res Notes"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Approximately 10% of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency carry a mutation that disrupts<jats:italic>CYP21A2<\/jats:italic>and the flanking<jats:italic>TNXB<\/jats:italic>gene resulting in CAH-X, a contiguous gene deletion syndrome.<jats:italic>TNXB<\/jats:italic>encodes tenascin-X (TNX), an extracellular matrix glycoprotein that plays an important role in collagen organization.<jats:italic>TNXB<\/jats:italic>impairment is associated with Ehlers\u2013Danlos syndrome. Symptoms include joint hypermobility, hernias and cardiac defects. We measured serum TNX using an antibody targeting the amino-terminal of the TNX protein in 161 subjects, including extensively genotyped and phenotyped CAH patients, their relatives, and healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We evaluated the potential of serum TNX as a screening tool for CAH-X. CAH-X patients, especially haploinsufficient patients carrying the<jats:italic>TNXA<\/jats:italic>-<jats:italic>TNXB<\/jats:italic>chimeric gene CAH-X-CH-1 showed reduced TNX levels compared to controls (<jats:italic>P\u2009<\/jats:italic>&lt;\u20090.05). TNX levels were similar in all subjects carrying a<jats:italic>TNXB<\/jats:italic>mutation. However, CAH patients who did not harbor a<jats:italic>TNXB<\/jats:italic>mutation also had reduced TNX compared to controls (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). Thus, measuring serum TNX is not an effective screen for CAH-X amongst patients with CAH.<jats:italic>TNXB<\/jats:italic>genotyping is recommended for CAH patients who have symptoms of a connective tissue disorder. Epigenetic factors that influence TNX expression require further study.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s13104-019-4753-7","type":"journal-article","created":{"date-parts":[[2019,10,30]],"date-time":"2019-10-30T20:44:07Z","timestamp":1572468247000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers\u2013Danlos contiguous gene deletion syndrome CAH-X"],"prefix":"10.1186","volume":"12","author":[{"given":"Vipula","family":"Kolli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamsini","family":"Rao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qizong","family":"Lao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Gaynor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua D.","family":"Milner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah P.","family":"Merke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,10,30]]},"reference":[{"issue":"10108","key":"4753_CR1","doi-asserted-by":"publisher","first-page":"2194","DOI":"10.1016\/S0140-6736(17)31431-9","volume":"390","author":"D El-Maouche","year":"2017","unstructured":"El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet. 2017;390(10108):2194\u2013210.","journal-title":"Lancet"},{"issue":"11","key":"4753_CR2","doi-asserted-by":"publisher","first-page":"4043","DOI":"10.1210\/jc.2018-01865","volume":"103","author":"PW Speiser","year":"2018","unstructured":"Speiser PW, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2018;103(11):4043\u201388.","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"4753_CR3","doi-asserted-by":"publisher","first-page":"1276","DOI":"10.1038\/gim.2017.46","volume":"19","author":"F Hannah-Shmouni","year":"2017","unstructured":"Hannah-Shmouni F, et al. Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians. 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The study was approved by the <i>Eunice Kennedy Shriver<\/i> National Institute of Child Health and Human Development, and the National Institute of Allergy and Infectious Disease Institutional Review Boards.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"711"}}