Article
A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.
Journal of endocrinological investigation - 1 Mar 2012
Menabò S, Balsamo A, Baldazzi L, Barbaro M, Nicoletti A, Conti V, Pirazzoli P, Wedell A, Cicognani A
Abstract excerpt
BACKGROUND: Congenital adrenal hyperplasia (CAH) is mainly caused by the deficiency of the 21-hydroxylase enzyme coded by the CYP21A2 gene. However, some alleles in the non-classical form (NC-CAH) remain without identified mutations, suggesting the involvement of regulatory regions. AIM: Our objective was to study an allele carrying the variant *13 G>A in the 3'UTR of the CYP21A2 gene identified in some patients...
Topics
- 3' Untranslated Regions
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adult
- Child
- Female
- Genetic Predisposition to Disease
- Genetic Variation
- Haplotypes
- Humans
- Male