{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T06:11:46Z","timestamp":1777356706295,"version":"3.51.4"},"reference-count":35,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2005]]},"abstract":"<i>Aims:<\/i> Steroid 11\u03b2-hydroxylase deficiency (11\u03b2-OHD) is the second most common (5\u20138%) cause of congenital adrenal hyperplasia (CAH), and results from homozygous or compound heterozygous mutations or deletions of the responsible gene <i>CYP11B1<\/i>. In order to better understand the molecular basis causing 11\u03b2-OHD, we performed detailed studies of <i>CYP11B1<\/i> in a newly described patient diagnosed with the classical signs of 11\u03b2-OHD. <i>Methods:<\/i><i>CYP11B1<\/i> of the patient was investigated by polymerase chain reaction (PCR), sequencing, restriction fragment length polymorphism (RFLP) analysis, Southern blotting, and transient cell expression. <i>Results:<\/i> We identified two new mutated alleles in <i>CYP11B1<\/i>. In one allele <i>CYP11B1<\/i> has a g.940G\u2192C (p.G314R) missense mutation. On the other allele we found a chimeric gene that consists of part of the aldosterone synthase gene <i>(CYP11B2)<\/i> at exons 1\u20133 and part of the 11\u03b2-hydroxylase gene <i>(CYP11B1)<\/i> at exons 4\u20139. Inin vitro studies, the g.940G\u2192C (p.G314R) mutation abolished all hydroxylase activity in comparison with the wild-type 11\u03b2-hydroxylase. The chimeric <i>CYP11B2\/CYP11B1<\/i> protein retained 11\u03b2-hydroxylase enzymatic activity in vitro. <i>Conclusion:<\/i> This case is caused by compound heterozygosity for a nonfunctional missense mutation and a chimeric <i>CYP11B2\/CYP11B1<\/i> gene with hydroxylase activity that is controlled by the <i>CYP11B2<\/i> promoter. The most likely explanation is that the <i>CYP11B2<\/i> promoter does not function in the zona fasciculata\/reticularis where cortisol is exclusively synthesized.<\/jats:p>","DOI":"10.1159\/000087074","type":"journal-article","created":{"date-parts":[[2005,7,18]],"date-time":"2005-07-18T12:50:55Z","timestamp":1121691055000},"page":"284-293","source":"Crossref","is-referenced-by-count":11,"title":["Steroid 11-Beta-Hydroxylase Deficiency Caused by Compound Heterozygosity for a Novel Mutation, p.G314R, in One <i>CYP11B1<\/i> Allele, and a Chimeric <i>CYP11B2\/CYP11B1<\/i> in the Other Allele"],"prefix":"10.1159","volume":"63","author":[{"given":"Isao","family":"Kuribayashi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Nomoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Massa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilma","family":"Oostdijk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan M.","family":"Wit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce 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