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The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis
- Source :
- Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
- Publication Year :
- 2024
- Publisher :
- Nature Publishing Group, 2024.
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 2054345X
- Volume :
- 11
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Human Genome Variation
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.2377ab8e21404e89c2752faf0adce3
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s41439-024-00288-7