Variable phenotype expression with a frameshift mutation of the cardiac sodium channel gene SCN5A

Variable phenotype expression with a frameshift mutation of the cardiac sodium channel gene SCN5A

Abstract Loss-of-function mutations in the cardiac sodium channel α-subunit gene SCN 5 A result in multiple inherited arrhythmic syndromes. This case report describes 2 unrelated probands carrying an identical SCN 5 A frameshift mutation, V1764fsX1786, who exhibited distinct clinical manifestations:...

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Veröffentlicht in:Journal of arrhythmia 2013-10, Vol.29 (5), p.291-295
Hauptverfasser: Kawakami, Hiroshi, MD, Aiba, Takeshi, MD, PhD, Yamada, Tadakatsu, MD, PhD, Okayama, Hideki, MD, PhD, Kazatani, Yukio, MD, PhD, Konishi, Kyoko, MD, PhD, Nakajima, Ikutaro, MD, Miyamoto, Koji, MD, Yamada, Yuko, MD, Okamura, Hideo, MD, Noda, Takashi, MD, PhD, Satomi, Kazuhiro, MD, PhD, Kamakura, Shiro, MD, PhD, Makita, Naomasa, MD, PhD, Shimizu, Wataru, MD, PhD
Format: Artikel
Sprache:eng
Schlagworte:
Age
Cardiac arrhythmia
Cardiac stress tests
Cardiomyopathy
Cardiovascular
Consciousness
Coronary vessels
Disease
Electrocardiography
Electrophysiology
Exercise
Family medical history
Genotype & phenotype
Medical imaging
Mutation
Pacemakers
Progressive cardiac conduction defect
SCN5A
Sinuses
Sodium
Sudden cardiac death
Ventricular fibrillation
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Zusammenfassung:Abstract Loss-of-function mutations in the cardiac sodium channel α-subunit gene SCN 5 A result in multiple inherited arrhythmic syndromes. This case report describes 2 unrelated probands carrying an identical SCN 5 A frameshift mutation, V1764fsX1786, who exhibited distinct clinical manifestations: progressive cardiac conduction defect (PCCD)/Brugada syndrome (patient #1) and idiopathic ventricular fibrillation (IVF) (patient #2). Using a whole-cell patch clamp technique, cells expressing V1764fsX1786 showed no observable Na+ current. Therefore, a significant phenotypic overlap was found between IVF and PCCD/Brugada syndrome in the 2 probands with the V1764fsX1786, loss-of-function frameshift mutation of the cardiac sodium channel gene SCN 5 A.
ISSN:1880-4276
1883-2148
DOI:10.1016/j.joa.2013.04.005