Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia

摘要: Type II 3β-hydroxysteroid dehydrogenase/Δ5-Δ4-isomerase (3β-HSD2), encoded by the HSD3B2 gene, is a key enzyme involved in biosynthesis of all classes steroid hormones. Deleterious mutations gene cause classical deficiency 3β-HSD2, which rare autosomal recessive disease that leads to congenital adrenal hyperplasia (CAH). CAH most frequent ambiguous genitalia and insufficiency newborn infants with variable degrees salt losing. Here we report molecular structural analysis 46,XY child, who was born from consanguineous parents, presented The patient carries homozygous nucleotide c.665C>A change exon 4 putatively substitutes proline at codon 222 for glutamine. Molecular homology modeling normal mutant 3β-HSD2 enzymes emphasizes as an important residue folding pattern validates suitable model new mutations.