Article
A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
BMC medical genetics - 22 Jul 2009
Concolino Paola, Mello Enrica, Minucci Angelo, Giardina Emiliano, Zuppi Cecilia, Toscano Vincenzo, Capoluongo Ettore
Abstract excerpt
BACKGROUND: More than 90% of Congenital Adrenal Hyperplasia (CAH) cases are associated with mutations in the 21-hydroxylase gene (CYP21A2) in the HLA class III area on the short arm of chromosome 6p21.3. In this region, a 30 kb deletion produces a non functional chimeric gene with its 5' and 3' ends corresponding to CYP21A1P pseudogene and CYP21A2, respectively. To date, five different CYP21A1P/CYP21A2 chimeric...
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