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  • Title: Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia.
    Author: Concolino P, Vendittelli F, Mello E, Minucci A, Carrozza C, Rossodivita A, Giardina B, Zuppi C, Capoluongo E.
    Journal: Clin Endocrinol (Oxf); 2009 Oct; 71(4):470-6. PubMed ID: 19170707.
    Abstract:
    BACKGROUND: More than 90% of all cases of congenital adrenal hyperplasia (CAH) result from steroid 21-hydroxylase gene (CYP21A2) mutations. Most of these mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene. Rare mutations not generated by gene conversion account for 5-10% of 21-hydroxylase deficiency alleles. OBJECTIVE: Functional analysis of two novel CYP21A2 missense mutations (p.R224W and p.D407N) was performed. DESIGN: Our study was composed of two Italian patients suffering from a very mild form of nonclassic CAH (NC-CAH). To assay the enzymatic activity of mutants, the in vitro analysis was performed in transiently transfected COS-1 cells. RESULTS: The residual activities obtained for p.R224W and p.D407N mutants allow their classification as NC-CAH mutations. These results correlate with the rate of severity of the patients' disease. CONCLUSIONS: In this paper, we report two novel CYP21A2 mutations in two Italian individuals affected by 21-hydroxylase deficiency. Based on the functional in vitro analysis we can classify these mutations as NC-CAH variants.
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