APOA1 p.Leu202Arg 变异可能导致常染色体隐性遗传性心脏淀粉样变性病。

IF 1 Q4 GENETICS & HEREDITY Human Genome Variation Pub Date : 2024-08-16 DOI:10.1038/s41439-024-00288-7

Shusuke Yagi, Ryosuke Miyamoto, Masayoshi Tasaki, Hiroyuki Morino, Ryuji Otani, Muneyuki Kadota, Takayuki Ise, Hiroki Yamazaki, Kenya Kusunose, Koji Yamaguchi, Hirotsugu Yamada, Takeshi Soeki, Tetsuzo Wakatsuki, Daiju Fukuda, Mitsuharu Ueda, Masataka Sata

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摘要

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病，通常累及心脏、肾脏和肝脏。载脂蛋白 A-I 淀粉样变性病由 APOA1 的淀粉样变性引起，呈常染色体显性遗传。在此，我们报告了一名患有散发性心脏淀粉样变性病的 69 岁男性患者，他的父母为近亲结婚，并携带 APOA1 中 p.Leu202Arg 的同源变体。

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The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.

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.

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