Screening CYP11B Mutations in Patients with Congenital Adrenal Hyperplasia
Project no. 46 · Status: Kapanmış · 2016
Summary
Purpose: The second most common cause of congenital adrenal hyperplasia (CAH) is deficiency of 11 beta-hydroxylase enzyme due to mutations in the CYP11B1 gene, after CYP21A2 mutations. In this study, it is aimed to contribute to the medical literature with the novel mutations obtained by performing gene sequence analysis of CYP11B1 gene and correlation of CAH phenotype-genotype can be demonstrated. Materials: It’s important to analyze which deficiency causes CAH because of replacing the enzyme and cure the symptoms. Genetical studies have an important role to determine enzyme deficiencies and differential diagnosis. At this stage, studies are needed to determine mutations on the CYP11B1 gene causing 11beta-Hydroxylase enzyme deficiency in our country and in the world. Methods: Ten cases(n = 10) with CAH due to 11beta- hydroxylase deficiency and with negative CYP21A2 mutations were included in the study in terms of clinical and laboratory findings, which were followed and treated by the Department of Pediatric Endocrinology of Ege University. In these cases, 2 cc blood with EDTA performed and their DNAs’ CYP11B1 genes’ exons were amplified by PCR.The results were analyzed using the CLC Bio program. Results: Mutations found were evaluated in the ENSEMBL and HGMD databases.Total three mutations including two novel mutations (homozigot T318T(ACG>ACA) ; IVS8+2T>C(c.1398+2T>C)) and (c.1200+1G>A (IVS7+1G>A) ) detected at 3 (30%) cases. In silico analysis determined that novel mutations might be related to the disease. Conclusion: In this study, whole sequence analysis method successfully performed for CYP11B1 gene at our university and identified disease-causing novel mutations.