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首页> 外文期刊>BMC Medical Genomics >A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia
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A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia

机译：ARMC5中的一种新型无意义突变导致原发性双侧次规肾上腺皮质增生

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Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a rare form of adrenal Cushing’s syndrome. The slowly progressing expansion of bilateral adrenal tissues usually persists for dozens of years, leading to delayed onset with severe conditions due to chronic mild hypercortisolism. About 20–50% cases were found to be caused by inactivating mutation of armadillo repeat-containing protein 5 (ARMC5) gene. A 51-year-old man was admitted for severe diabetes mellitus, resistant hypertension, centripedal obesity and edema. PBMAH was diagnosed after determination of adrenocorticotropic hormone and cortisol levels, dexamethasone suppression tests and abdominal contrast-enhanced CT scanning. The metabolic disorders of the patient remarkably improved after sequentially bilateral laparoscopic adrenalectomy combined with hormone replacement. Sanger sequencing showed germline nonsense mutation of ARMC5 c.967CT (p.Gln323Ter). The second somatic missense mutation of ARMC5 was detected in one out of two resected nodules, reflecting the second-hit model of tumorigenesis. Routine genetic testing in his apparently healthy offspring showed one of two daughters and one son harbored the germline mutation. In conclusion, our case report highlight the importance of genetic testing in the molecular diagnosis of PBMAH. Genetic screening in related family members will find out asymptomatic variant carriers to guide life-long follow-up.
机译：原发性双侧丙古肾上腺皮质增生（PBMAH）是一种罕见的肾上腺囊综合征。双侧肾上腺组织的缓慢进展膨胀通常持续数十年，导致由于慢性轻度高温溶解而导致严重的病症发生延迟。发现约20-50％的病例是通过灭活含犰狳重复的蛋白5（ARMC5）基因的突变引起的。一名51岁的男子被犯了严重的糖尿病，抗性高血压，离心肥胖症和水肿。在测定肾上腺皮质激素和皮质醇水平，地塞米松抑制试验和腹对比增强CT扫描后被诊断为PBMAH。依次双侧腹腔镜肾上腺切除结合激素替代后，患者的代谢紊乱显着改善。 Sanger测序显示ARMC5 C.967C＆GT; T（P.Gln323ter）的种系突变。在两种切除的结节中检测ARMC5的第二个体细胞畸变突变，反映了肿瘤发生的第二次击中模型。他显然健康的后代的常规遗传测试显示了两个女儿和一个儿子患了一只儿子突出了种系突变。总之，我们的案例报告突显了遗传检测在PBMAH分子诊断中的重要性。相关家庭成员中的遗传筛查将发现无症状的变形载体，以引导终身随访。

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