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Background  Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in  CYP21A2  gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and management of CAH patients. Here we report a novel 9-bp insertion in  CYP21A2  gene and its structural and functional consequences on P450c21 protein by molecular modeling and molecular dynamics simulations methods.    Methods  A 30-day-old child was referred to our laboratory for molecular diagnosis of CAH. Sequencing of the entire  CYP21A2  gene revealed a novel insertion (duplication) of 9-bp in exon 2 of one allele and a well-known mutation I172N in exon 4 of other allele. Molecular modeling and simulation studies were carried out to understand the plausible structural and functional implications caused by the novel mutation.    Results  Insertion of the nine bases in exon 2 resulted in addition of three valine residues at codon 71 of the P450c21 protein. Molecular dynamics simulations revealed that the mutant exhibits a faster unfolding kinetics and an overall destabilization of the structure due to the triple valine insertion was also observed.    Conclusion  The novel 9-bp insertion in exon 2 of  CYP21A2  genesignificantly lowers the structural stability of P450c21 thereby leading to the probable loss of its function.

journal of biomedical science

A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods