{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T15:32:41Z","timestamp":1778859161923,"version":"3.51.4"},"reference-count":26,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2009,11,16]],"date-time":"2009-11-16T00:00:00Z","timestamp":1258329600000},"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":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital adrenal hyperplasia (CAH) due to 21\u2010hydroxylase deficiency is an autosomal recessive disorder and is the most common cause of ambiguous genitalia in the newborn. The genes encoding 21\u2010hydroxylase, <jats:italic>CYP21A2<\/jats:italic>, and tenascin\u2010X (TNX), <jats:italic>TNXB<\/jats:italic>, are located within the HLA complex, in a region of high gene density termed the RCCX module. The module has multiple pseudogenes as well as tandem repeat sequences that promote misalignment during meiosis leading to complex gene rearrangements, deletions and gene conversion events. <jats:italic>CYP21A2<\/jats:italic> mutations cause CAH, and TNX deficiency has been identified as a cause of hypermobility type Ehlers\u2013Danlos syndrome (EDS). Here we report on a three\u2010generation family with a heterozygous deletion encompassing <jats:italic>CYP21A2<\/jats:italic> and <jats:italic>TNXB<\/jats:italic> that initially came to medical attention due to the diagnosis of CAH in the proposita. Southern blotting and PCR\u2010based analysis of the RCCX module revealed a <jats:italic>CYP21A2<\/jats:italic> deletion extending into <jats:italic>TNXB<\/jats:italic> in one allele and a <jats:italic>CYP21A2<\/jats:italic> point mutation in the other allele. Family history is notable for joint hypermobility. Additional radiological and clinical investigations showed a quadricuspid aortic valve, single kidney, bicornuate uterus and a bifid uvula in the proposita, and mitral valve prolapse in her mother. These findings further delineate the phenotype of the CAH\u2010TNX contiguous gene deletion syndrome and point to an intersection of connective tissue dysplasias with a common gene\u2010mediated endocrine disorder. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33092","type":"journal-article","created":{"date-parts":[[2009,11,17]],"date-time":"2009-11-17T01:51:01Z","timestamp":1258422661000},"page":"2803-2808","source":"Crossref","is-referenced-by-count":26,"title":["The phenotypic spectrum of contiguous deletion of <i>CYP21A2<\/i> and tenascin XB: Quadricuspid aortic valve and other midline defects"],"prefix":"10.1002","volume":"149A","author":[{"given":"Wuyan","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mimi 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