由 MTTP 基因新型复合杂合子突变引起的无脂蛋白血症新病例,无脂肪或维生素吸收不良。

IF 3 2区 医学 Q2 PERIPHERAL VASCULAR DISEASE Journal of atherosclerosis and thrombosis Pub Date : 2024-11-01 Epub Date: 2024-05-14 DOI:10.5551/jat.64730
Kei Sasaki, Hayato Tada, Tomohiro Komatsu, Hisato Terada, Yasuhiro Endo, Katsunori Ikewaki, Yoshinari Uehara
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引用次数: 0

摘要

无脂蛋白血症(ABL)是一种罕见疾病,其特征是含载脂蛋白 B(apoB)的脂蛋白水平极低、膳食脂肪和脂溶性维生素吸收不良,从而导致胃肠道、神经肌肉和眼科症状。我们在此报告一例 ABL 患者,其微粒体甘油三酯转移蛋白基因存在新型复合杂合突变(c.1686_1687del [p.Ser563TyrfsTer10] 和 c.1862T>C [p.Ile621Thr]),该突变是通过面板测序确定的。虽然患者的低密度脂蛋白胆固醇水平极度降低,并伴有脂肪肝,但他并没有表现出其他典型的并发症。此外,与典型的 ABL 不同,该患者的载脂蛋白 B-48 分泌保持正常,高密度脂蛋白胆固醇浓度升高,这可能是血清脂溶性维生素水平正常的原因。
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A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.

Abetalipoproteinemia (ABL) is a rare disease characterized by extremely low apolipoprotein B (apoB)-containing lipoprotein levels, dietary fat, and fat-soluble vitamin malabsorption, leading to gastrointestinal, neuromuscular, and ophthalmological symptoms. We herein report a case of ABL with novel compound heterozygous mutations in the microsomal triglyceride transfer protein gene (c.1686_1687del [p.Ser563TyrfsTer10] and c.1862T>C [p.Ile621Thr]), identified via panel sequencing. Although the patient had extremely reduced low-density lipoprotein cholesterol levels and a fatty liver, he did not exhibit other typical complications. Furthermore, unlike typical ABL, this patient had a preserved apoB-48 secretion and increased concentrations of high-density lipoprotein cholesterol, which may account for the normal serum fat-soluble vitamin levels.

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来源期刊
CiteScore
6.60
自引率
15.90%
发文量
271
审稿时长
1 months
期刊介绍: JAT publishes articles focused on all aspects of research on atherosclerosis, vascular biology, thrombosis, lipid and metabolism.
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