CUSHING DISEASE WHOLE EXOME SEQUENCING STUDY

此任务顺序的目的是使用完整外显子组测序(WES)，并由我们的合作研究人员进行适当的后续调查，以确定与库欣病(CD)相关的重要遗传因素以及相关的异常实验室、临床和生理特征。最终目标是确定导致CD的一个或多个遗传变异。库欣病(CD)是一种脑下垂体分泌不适当的高水平促肾上腺皮质激素(ACTH)的疾病。促肾上腺皮质激素刺激肾上腺产生过量的皮质醇，导致临床疾病。CD是由分泌ACTH的脑垂体瘤引起的。值得注意的是，CD患者也有异常的特征：异常的面部特征，包括异常的面部高度和鼻长。

The purpose of this task order is to use whole exome sequencing (WES) with appropriate follow up by our co-investigators to identify important genetic factors associated with Cushing’s disease (CD) and related abnormal laboratory, clinical and physical features. The ultimate goal is to identify a genetic variant or variants that cause CD. Cushing’s disease (CD) is a condition in which the pituitary gland produces inappropriately high levels of adrenocorticotropic hormone (ACTH). The ACTH stimulates the adrenal gland to produce excess cortisol, leading to clinical disease. CD is caused by ACTH secreting pituitary tumors. It is noteworthy that patients who have CD also have abnormal features: abnormal facial features including abnormal facial height and nasal length.