Objectives: To report a first case of 21-hydroxylase deficiency associated with anew genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene. Design and methods: Direct genetic sequencing of CYP21A2 gene was performed. Results: Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281L and V281+I172N carriers, respectively. Conclusions: V281+I172N/V281L genotype should be included in the panel of mutations associated with the non-classical forms of 21-hydroxylase deficiency. (c) 2007 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
Corsello S;
2007-01-01
Abstract
Objectives: To report a first case of 21-hydroxylase deficiency associated with anew genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene. Design and methods: Direct genetic sequencing of CYP21A2 gene was performed. Results: Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281L and V281+I172N carriers, respectively. Conclusions: V281+I172N/V281L genotype should be included in the panel of mutations associated with the non-classical forms of 21-hydroxylase deficiency. (c) 2007 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.File in questo prodotto:
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