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.
Authors
- Ryosuke Miyamoto (ORCID: https://orcid.org/0000-0003-3639-6484)
- Masayoshi Tasaki (ORCID: https://orcid.org/0000-0002-9597-4128)
- Kenya Kusunose (ORCID: https://orcid.org/0000-0002-4909-754X)
- Ryuji Otani
- Takayuki Ise
- Muneyuki Kadota
- Mitsuharu Ueda (ORCID: https://orcid.org/0000-0002-6814-0582)
- Shusuke Yagi
- Hiroyuki Morino (ORCID: https://orcid.org/0000-0002-5190-3547)
- Masataka Sata (ORCID: https://orcid.org/0000-0002-8036-7501)
- Daiju Fukuda
- Takeshi Soeki
- Koji Yamaguchi (ORCID: https://orcid.org/0000-0002-8758-6598)
- Hirotsugu Yamada (ORCID: https://orcid.org/0000-0003-3741-5560)
- Hiroki Yamazaki (ORCID: https://orcid.org/0000-0001-8609-1895)
- Tetsuzo Wakatsuki
Institutions
- Tokushima Red Cross Hospital (JP)
- Osaka Metropolitan University (JP)
- Tokyo Metropolitan University (JP)
- Tokushima University (JP)
- Kumamoto University (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2024-08-16
- DOI
- https://doi.org/10.1038/s41439-024-00288-7
- Citations
- 3
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.70