Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2.
Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2.
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与载脂蛋白 B45.2 相关的无症状纯合性低β脂蛋白血症。
DOI：
10.1093/hmg/3.5.741
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发表时间：
1994
影响因子：
3.5
通讯作者：
Jacotot,B
中科院分区：
文献类型：
--
作者：
Young,SG;Bihain,B;Flynn,LM;Sanan,DA;Ayrault-Jarrier,M;Jacotot,B
家族性低脂蛋白血症是由载脂蛋白（apo） B基因突变引起的，通常与血浆中载脂蛋白（apo） B蛋白的截断有关。产生截断的载脂蛋白b的突变的纯合性是极其罕见的；在世界文献中描述的真正的纯合子不到五个。这些患者通常有正常的甘油三酯水平，几乎没有低密度脂蛋白（LDL）胆固醇。这些患者的临床状态各不相同，从两个纯合子合成截短的载脂蛋白b （apo-B87）无症状到一个纯合子合成较短的载脂蛋白b （apo-B50）因维生素E缺乏而导致的严重神经系统疾病。在这个报告中，我们描述了一个48岁的女性纯合子的无义突变导致更短的载脂蛋白b，载脂蛋白b45.2。尽管该患者几乎没有低密度脂蛋白胆固醇，但她无症状，血浆维生素e水平正常。该病例表明，载脂蛋白b突变的纯合性与载脂蛋白b相对较短的截短相关，可以完全无症状。
Familial hypobetalipoproteinemia is caused by apolipoprotein (apo) B gene mutations and is frequently associated with a truncated apo-B protein In the plasma. Homozygosity for mutations yielding a truncated apo-B is extremely rare; fewer than five true homozygotes have been described in the world's literature. These patients typically have normal levels of triglycerldes and virtually absent low density lipoprotein (LDL) cholesterol. The clinical status of these patients is variable, ranging from asymptomatic in two homozygotes who synthesized a truncated apo-B (apo-B87) to severe neurological disease resulting from vitamin E deficiency in a homozygote who synthesized a shorter apo-B (apo-B50). In this report, we describe a 48-year-old female homozygous for a nonsense mutation resulting in an even shorter apo-B, apo-B45.2. Although this individual had virtually no LDL cholesterol, she was asymptomatic and had normal plasma levels of vitamin E. This case demonstrates that homozygosity for an apo-B mutation associated with a relatively short apo-B truncation can be completely asymptomatic.