Activating hotspot L205R mutation in PRKACA and adrenal Cushing’s syndrome

@article{Cao2014ActivatingHL,
  title={Activating hotspot L205R mutation in PRKACA and adrenal Cushing’s syndrome},
  author={Yanan Cao and Minghui He and Zhibo Gao and Ying Peng and Yanli Li and Lin Li and Weiwei Zhou and Xiangchun Li and Xu Zhong and Yiming Lei and Tingwei Su and H Wang and Yiran Jiang and Lin Yang and Wei Wei and Xu Yang and Xiuli Jiang and Li Liu and Juan He and JunNa Ye and Qing Wei and Yingrui Li and Weiqing Wang and Jun Wang and Guang Ning},
  journal={Science},
  year={2014},
  volume={344},
  pages={913-917}
}
Adrenal Cushing’s syndrome is caused by excess production of glucocorticoid from adrenocortical tumors and hyperplasias, which leads to metabolic disorders. We performed whole-exome sequencing of 49 blood-tumor pairs and RNA sequencing of 44 tumors from cortisol-producing adrenocortical adenomas (ACAs), adrenocorticotropic hormone–independent macronodular adrenocortical hyperplasias (AIMAHs), and adrenocortical oncocytomas (ADOs). We identified a hotspot in the PRKACA gene with a L205R mutation… CONTINUE READING
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