Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene

ConclusionThis study presents the high allelic heterogeneity of CYP11B1 mutations in CAH patients from Turkey. Three dimensional protein simulations may provide additional support for the pathogenicity of the genetic alterations. Our results provide reliable information for genetic counseling, preventive and therapeutic strategies for the families.Graphical abstractA 3D structure of Cytochrome P450 11B1.Positions of all the coding region mutations in our cases are pointed by arrow, and marked by purple color for easy identification.
Source: The Journal of Steroid Biochemistry and Molecular Biology - Category: Biochemistry Source Type: research