A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.

摘要: Background: Congenital adrenal hyperplasia (CAH) is mainly caused by the deficiency of 21-hydroxylase enzyme coded CYP21A2 gene. However, some alleles in non-classical form (NC-CAH) remain without identified mutations, suggesting involvement regulatory regions. Aim: Our objective was to study an allele carrying variant *13 G>A 3’UTR gene patients with a mild NC-CAH order verify possible implication this variation phenotype observed. Subjects and methods: Among all subjects whom analyzed, 14 7 relatives heterozygous or homozygous for substitution were selected. Sequencing DNA, genotyping, multiplex ligation-dependent probe amplification (MLPA), vitro studies bioinformatic analysis performed. Results: The haplotype identical monomodular structure composed one C4A second module CYP21A1P pseudogene. No other concomitant mutations found region extending from 3 kb promoter encompassing polyadenylation signal. Both predicted alteration RNA folding expression, but no miRNA target sequences region. Conclusions: identification associated suggests importance analyzing untranslated regions better characterize treat subgroup patients.