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- Title
The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.
- Authors
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
- Abstract
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.
- Subjects
CARDIAC amyloidosis; CONSANGUINITY; APOLIPOPROTEIN A; AMYLOIDOSIS; KIDNEYS
- Publication
Human Genome Variation, 2024, Vol 11, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-024-00288-7