The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis
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 card...
Saved in:
| Main Authors: | , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2024-08-01
|
| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00288-7 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832594939462025216 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Shusuke Yagi |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-dd2377ab8e21404e89c2752faf0adce3 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-08-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-dd2377ab8e21404e89c2752faf0adce32025-01-19T12:15:52ZengNature Publishing GroupHuman Genome Variation2054-345X2024-08-011111410.1038/s41439-024-00288-7The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosisShusuke Yagi0Ryosuke Miyamoto1Masayoshi Tasaki2Hiroyuki Morino3Ryuji Otani4Muneyuki Kadota5Takayuki Ise6Hiroki Yamazaki7Kenya Kusunose8Koji Yamaguchi9Hirotsugu Yamada10Takeshi Soeki11Tetsuzo Wakatsuki12Daiju Fukuda13Mitsuharu Ueda14Masataka Sata15Department of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical SciencesDepartment of Neurology, Tokushima University Graduate School of Biomedical SciencesDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto UniversityDepartment of Medical Genetics, Tokushima University Graduate School of Biomedical SciencesDepartment of Cardiology, Tokushima Red Cross HospitalDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical SciencesDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical SciencesDepartment of Neurology, Tokushima University Graduate School of Biomedical SciencesDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical SciencesDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical SciencesDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical SciencesDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical SciencesDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical SciencesDepartment of Cardiovascular Medicine, Osaka Metropolitan University Graduate School of MedicineDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto UniversityDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical SciencesAbstract 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.https://doi.org/10.1038/s41439-024-00288-7 |
| spellingShingle | 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 The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis Human Genome Variation |
| title | The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis |
| title_full | The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis |
| title_fullStr | The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis |
| title_full_unstemmed | The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis |
| title_short | The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis |
| title_sort | apoa1 p leu202arg variant potentially causes autosomal recessive cardiac amyloidosis |
| url | https://doi.org/10.1038/s41439-024-00288-7 |
| work_keys_str_mv | AT shusukeyagi theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT ryosukemiyamoto theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT masayoshitasaki theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT hiroyukimorino theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT ryujiotani theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT muneyukikadota theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT takayukiise theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT hirokiyamazaki theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT kenyakusunose theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT kojiyamaguchi theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT hirotsuguyamada theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT takeshisoeki theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT tetsuzowakatsuki theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT daijufukuda theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT mitsuharuueda theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT masatakasata theapoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT shusukeyagi apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT ryosukemiyamoto apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT masayoshitasaki apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT hiroyukimorino apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT ryujiotani apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT muneyukikadota apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT takayukiise apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT hirokiyamazaki apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT kenyakusunose apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT kojiyamaguchi apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT hirotsuguyamada apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT takeshisoeki apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT tetsuzowakatsuki apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT daijufukuda apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT mitsuharuueda apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis AT masatakasata apoa1pleu202argvariantpotentiallycausesautosomalrecessivecardiacamyloidosis |