目的　分析AGPAT2基因变异致先天性全身脂肪不良症（CGL）的诊断和治疗。方法　回顾分析1例AGPAT2 基因变异致CGL患儿的临床资料、实验室检查及基因测序结果，并结合国内外文献进行分析总结。结果　女性患儿，12岁， 多饮多尿伴体质量下降1个月。患儿三角面容，皮下脂肪极少，肌肉发达，腋下黑棘皮症。实验室检查提示糖尿病、高脂血 症以及脂肪肝。基因检测提示患儿AGPAT2基因复合杂合变异，c.379G>C源自父亲，c.317-10T>A源自母亲。根据美国医 学遗传学与基因组学学会指南分析，c.379G>C变异为疑似致病变异，c.317-10T>A变异临床意义未明。患儿经皮下胰岛 素注射及口服二甲双胍治疗后血糖控制可。结论　该例为国内报道的第2例AGPAT2基因变异致CGL，且为新发现的基因 变异。

Objective　To report a case of congenital generalized lipodystrophy, with mutation in AGPAT2 gene. Method Clinical data, the result of laboratory and gene tests were retrospectively analyzed, and related literatures were reviewed. Result A 12-year-old girl was admitted into our department for polydipsia, diuresis and weight loss. Physical examination and laboratory tests found the triangle face, lack of subcutaneous fat, strong muscles, acanthosis nigricans, diabetes, hypertriglyceridemia and fatty liver. The gene test identified compound heterozygous mutations of c.379G>C inherited from her father and c.317-10T>A inherited from her mother in AGPAT2 gene. According to the ACMG guidelines, c.379G>C is likely pathogenic while c.317-10T>A is of uncertain significance. After treatment of insulin and metformin, the patient’s blood glucose is well controlled. Conclusion This case is the second case with AGPAT2 gene mutation reported in China. C.379G>C and c.317-10T>A are novel mutations which have not been reported.