Clinical and Genetic Investigation of a Japanese Family With Cardiac Fabry Disease Identification of a Novel .ALPHA.-Galactosidase A Missense Mutation (G195V)
-
- Seino Utako
- Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences
-
- Kawabe Jun-ichi
- Department of Cardiovascular Regeneration and Innovation, Asahikawa Medical University
-
- Takahashi Fumihiko
- Department of Internal Medicine, Hokkaido Prefectural Haboro Hospital
-
- Kobayashi Motoi
- Division of Cardiology, Nephrology, Pulmonology and Neurology, Department of Internal Medicine, Asahikawa Medical University
-
- Yamauchi Atsushi
- Division of Cardiology, Nephrology, Pulmonology and Neurology, Department of Internal Medicine, Asahikawa Medical University
-
- Sasaki Yukie
- Division of Cardiology, Nephrology, Pulmonology and Neurology, Department of Internal Medicine, Asahikawa Medical University
-
- Sakamoto Naka
- Division of Cardiology, Nephrology, Pulmonology and Neurology, Department of Internal Medicine, Asahikawa Medical University
-
- Ota Hisanobu
- Division of Cardiology, Nephrology, Pulmonology and Neurology, Department of Internal Medicine, Asahikawa Medical University
-
- Tanabe Yasuko
- Division of Cardiology, Nephrology, Pulmonology and Neurology, Department of Internal Medicine, Asahikawa Medical University
-
- Takeuchi Toshiharu
- Division of Cardiology, Nephrology, Pulmonology and Neurology, Department of Internal Medicine, Asahikawa Medical University
-
- Takenaka Toshihiro
- Division of Cardiac Repair and Regeneration, Graduate School of Medical and Dental Sciences, Kagoshima University
-
- Kikuchi Kenjiro
- Division of Cardiology, Nephrology, Pulmonology and Neurology, Department of Internal Medicine, Asahikawa Medical University
-
- Hasebe Naoyuki
- Division of Cardiology, Nephrology, Pulmonology and Neurology, Department of Internal Medicine, Asahikawa Medical University
-
- Nakagawa Naoki
- Division of Cardiology, Nephrology, Pulmonology and Neurology, Department of Internal Medicine, Asahikawa Medical University
-
- Maruyama Hiroki
- Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences
-
- Ishihara Takayuki
- Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences
書誌事項
- タイトル別名
-
- Identification of a Novel <i>α</i>-Galactosidase A Missense Mutation (G195V)
- 公開日
- 2011
- 資源種別
- journal article
- DOI
-
- 10.1536/ihj.52.308
- 公開者
- 一般社団法人 インターナショナル・ハート・ジャーナル刊行会
この論文をさがす
説明
Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A gene (GLA), and the disease is a relatively prevalent cause of left ventricular hypertrophy mimicking idiopathic hypertrophic cardiomyopathy. We assessed clinically 5 patients of a three-generation family and also searched for GLA mutations in 10 family members. The proband had left ventricular hypertrophy with localized thinning in the basal posterior wall and late gadolinium enhancement (LGE) in the near-circumferential wall in cardiovascular magnetic resonance images and her sister had vasospastic angina pectoris without organic stenosis of the coronary arteries. LGE notably appeared in parallel with decreased α-galactosidase A activity and increased NT-pro BNP in our patients. We detected a new GLA missense mutation (G195V) in exon 4, resulting in a glycine-to-valine substitution. Of the 10 family members, 5 family members each were positive and negative for this mutation. These new data extend our clinical and molecular knowledge of GLA gene mutations and confirm that a novel missense mutation in the GLA gene is important not only for a precise diagnosis of heterozygous status, but also for confirming relatives who are negative for this mutation.
収録刊行物
-
- International Heart Journal
-
International Heart Journal 52 (5), 308-311, 2011
一般社団法人 インターナショナル・ハート・ジャーナル刊行会
