Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Eur J Med Genet. 2022 Mar;65(3):104439. doi: 10.1016/j.ejmg.2022.104439. Epub 2022 Jan 29.
Costello syndrome (CS) is a rare disorder caused by activating dominantly acting germline variants in the HRAS gene. CS is defined by a clinical phenotype characterized by a distinctive gestalt, multiple congenital anomalies, and increased risk to develop tumors. Hypoglycemia and hypercholesterolemia have been reported to occur in affected individuals, but the underlying molecular events remain to be characterized. Here, we provided data on glucose/lipid metabolism and amino acid profile of a large single-center cohort of individuals affected by CS to systematically assess the extent of metabolic dysregulation characterizing this disorder and optimize patient management.
考斯特综合征（CS）是一种罕见疾病，由 HRAS 基因中的显性致活性种系变异引起。CS 的定义是具有独特整体特征、多种先天性异常和增加肿瘤发生风险的临床表型。据报道，受影响的个体中会发生低血糖和高胆固醇血症，但潜在的分子事件仍有待表征。在这里，我们提供了关于葡萄糖/脂质代谢和受 CS 影响的个体氨基酸谱的大型单中心队列的数据，以系统评估这种疾病特征性代谢失调的程度，并优化患者管理。
