Background The clinical manifestations of nonclassical 11beta-hydroxylase deficiency are very similar to those of nonclassical 21-hydroxylase deficiency.For this study,we investigated the relationship between the clinical and molecular features of congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency and reviewed the related literature,which are expected to provide assistance for the clinical diagnosis and analysis of congenital adrenal hyperplasia.Methods Clinical data for 10 Chinese patients diagnosed with congenital adrenal hyperplasia in our hospital from 2018 to 2022 were retrospectively analyzed.We examined the effects of gene mutations on protease activity and constructed threedimensional structure prediction models of proteins.Results We describe 10 patients with 11beta-hydroxylase gene mutations(n=5,46,XY;n=5,46,XX),with 10 novel mutations were reported.Female patients received treatment at an early stage,with an average age of 2.08±1.66 years,whereas male patients received treatment significantly later,at an average age of 9.77±3.62 years.The most common CYP11B1 pathogenic variant in the Chinese population was found to be c.1360C>T.All mutations lead to spatial conformational changes that affect protein stability.Conclusions Our study found that there was no significant correlation between each specific mutation and the severity of clinical manifestations.Different patients with the same gene pathogenic variant may have mild or severe clinical manifestations.The correlation between genotype and phenotype needs further study.Three-dimensional protein simulations may provide additional support for the physiopathological mechanism of genetic mutations.
蓖麻(Ricinus communis L.)是一种重要的工业油料作物,蓖麻油的主要成分是蓖麻油酸。蓖麻油酸12-羟化酶(oleate 12-hydroxylase, FAH12)是调控蓖麻油酸合成的关键酶,且仅在蓖麻种子中高效表达,具有组织特异性表达特性。经研究发现,FAH12基因表达调控元件主要集中在基因前端-1~-1432 bp (24680984~24682416),共含有84个TATA核心启动元件,42个标准启动子调控元件CAAT-Box, 2个胚乳形成相关的特异性表达元件Skn-1。以蓖麻基因组为材料,获得蓖麻油酸12羟化酶基因启动子,克隆到pCAMBIA1305.2表达载体中,替换组成型启动子CaMV35S,命名为pCAMBIA-FA12P。研究构建的表达载体pCAMBIA-FA12P可以用于后续引导目的基因在蓖麻中特异性表达的研究。
