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Abstract：
\"Normotriglyceridemic abetalipoproteinemia (ABL)\" was originally described as a clinical entity distinct from either ABL or hypobetalipoproteinemia. Subsequent studies identified mutations in APOB gene which encoded truncated apoB longer than apoB48. Therefore, \"Normotriglyceridemic ABL\" can be a subtype of homozygous familial hypobetalipoproteinemia. Here, we report an atypical female case of ABL who was initially diagnosed with \"normotriglyceridemic ABL\", because she had normal plasma apoB48 despite the virtual absence of apoB100 and low plasma TG level. Next generation sequencing revealed that she was a compound heterozygote of two novel MTTP mutations: nonsense (p.Q272X) and missense (p.G709R). We speculate that p.G709R might confer residual triglyceride transfer activity of MTTP preferentially in the intestinal epithelium to the hepatocytes, allowing production of apoB48. Together, \"normotriglyceridemic ABL\" may be a heterogenous disorder which is caused by specific mutations in either APOB or MTTP gene.
摘要：
“正常甘油三脂血症（ABL）”最初被描述为与ABL或低β脂蛋白血症不同的临床实体。随后的研究鉴定了APOB基因中编码比apoB48更长的截短apoB的突变。因此,“正常甘油血症ABL”可能是纯合子家族性低β脂蛋白血症的一种亚型。这里,我们报告了一例非典型的ABL女性病例，最初被诊断为“正常甘油血症ABL”，因为尽管几乎没有apoB100和低血浆TG水平，但她的血浆apoB48正常。下一代测序显示，她是两个新的MTTP突变的复合杂合子：无义（p。Q272X）和误解（第G709R)。我们推测p.G709R可能赋予残余甘油三酯转移活性的MTTP优先在肠上皮肝细胞，允许生产apoB48。一起,“正常甘油三酯性ABL”可能是一种异质性疾病，由APOB或MTTP基因的特定突变引起。
