载脂蛋白A1 p.Leu202Arg变异可能导致常染色体隐性遗传性心脏淀粉样变性。
The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.
作者信息
Yagi Shusuke, Miyamoto Ryosuke, Tasaki Masayoshi, Morino Hiroyuki, Otani Ryuji, Kadota Muneyuki, Ise Takayuki, Yamazaki Hiroki, Kusunose Kenya, Yamaguchi Koji, Yamada Hirotsugu, Soeki Takeshi, Wakatsuki Tetsuzo, Fukuda Daiju, Ueda Mitsuharu, Sata Masataka
机构信息
Department of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Department of Community and Family Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
出版信息
Hum Genome Var. 2024 Aug 16;11(1):30. doi: 10.1038/s41439-024-00288-7.
ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.Leu202Arg in APOA1.
载脂蛋白A-I淀粉样变性是一种极为罕见的全身性淀粉样变性，通常累及心脏、肾脏和肝脏。载脂蛋白A-I淀粉样变性由APOA1的淀粉样变形成变体引起，这些变体以常染色体显性方式遗传。在此，我们报告一名69岁散发型心脏淀粉样变性男性患者，其父母为近亲结婚，该患者携带APOA1基因p.Leu202Arg纯合变体。
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