A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
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DOI：
10.2169/internalmedicine.3737-19
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发表时间：
2020-01-01
影响因子：
1.2
通讯作者：
Kawashiri, Masa-aki
中科院分区：
文献类型：
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作者：
Tada, Hayato;Okada, Hirofumi;Kawashiri, Masa-aki
我们提出了第一例日本患者的家族性低β-脂蛋白血症（FHBL）引起的蛋白质截短变异的前蛋白转化酶枯草杆菌蛋白酶/kexin 9型（PCSK 9）基因。一名34岁的女性因低密度脂蛋白（LDL）-胆固醇血症（34 mg/dL）被转诊至我院。她没有低β脂蛋白血症的任何继发原因。她的父亲和妹妹也表现出低LDL胆固醇水平。我们在其中鉴定了PCSK 9基因中的蛋白质截短变体（c.1090_1091del/p.Pro364ArgfsTer62）。他们都没有表现出动脉粥样硬化性心血管疾病，也没有任何其他并发症与低LDL胆固醇，包括脂肪肝，神经认知障碍，或脑血管病。
We present the first case of a Japanese patient with familial hypobetalipoproteinemia (FHBL) caused by a protein-truncating variant in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene. A 34-year-old woman was referred to our hospital due to her low low-density lipoprotein (LDL)-cholesterolemia (34 mg/dL). She did not have any secondary causes of hypobetalipoproteinemia. Her father and her younger sister also exhibited low LDL cholesterol levels. We identified a protein-truncating variant in the PCSK9 gene (c.1090_1091del/p.Pro364ArgfsTer62) among them. None of them exhibited atherosclerotic cardiovascular diseases nor any other complications associated with low LDL cholesterol, including fatty liver, neurocognitive disorders, or cerebral hemorrhaging.