Document Detail

SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.
MedLine Citation:
PMID:  18368697     Owner:  NLM     Status:  MEDLINE    
Left ventricular noncompaction (LVNC) is a genetically heterogenous disorder. Mutations in the human cardiac sodium channel alpha-subunit gene (SCN5A) are involved in the pathophysiology of cardiac arrhythmias and cardiomyopathies. This study was performed to compare the frequency of SCN5A variants in LVNC patients with or without arrhythmias, and to investigate the relationship between variants and disease severity. DNA was isolated from the peripheral blood of 62 Japanese probands with LVNC, comprising 17 familial cases and 45 sporadic cases. Blood samples were screened for variants in SCN5A using single-strand conformational polymorphism analysis (SSCP) and DNA sequencing. Seven variants, rs6599230:G > A, c.453C > T, c.1141-3C > A, rs1805124:A > G (p.H558R), rs1805125:C > T (p.P1090L), c.3996C > T, and rs1805126:T > C were identified in 7 familial and 12 sporadic cases. The frequency of SCN5A variants was significantly higher in the patients with arrhythmias than those without (50% vs 7%: P = 0.0003), suggesting these variants represent a risk factor for arrhythmia and supporting the hypothesis that genes encoding ion channels are involved in LVNC pathophysiology. The LVNC patients with heart failure also had high occurrence of SCN5A variants, suggesting the presence of SCN5A variants and/or arrhythmias increase the severity of LVNC.
Lishen Shan; Naomasa Makita; Yanlin Xing; Sayake Watanabe; Takeshi Futatani; Fei Ye; Kazuyoshi Saito; Keijiro Ibuki; Kazuhiro Watanabe; Keiichi Hirono; Keiichiro Uese; Fukiko Ichida; Toshio Miyawaki; Hideki Origasa; Neil E Bowles; Jeffrey A Towbin
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  93     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2008 Apr 
Date Detail:
Created Date:  2008-03-26     Completed Date:  2008-04-21     Revised Date:  2011-07-22    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  468-74     Citation Subset:  IM    
Department of Pediatrics, University of Toyama, 2630 Sugitani, Toyama 930-0194, Japan.
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MeSH Terms
Arrhythmias, Cardiac / genetics*
Asian Continental Ancestry Group / genetics
Child, Preschool
Heart Failure / genetics
Hypertrophy, Left Ventricular / genetics*
Infant, Newborn
Middle Aged
Muscle Proteins / genetics*
Sodium Channels / genetics*
Reg. No./Substance:
0/Muscle Proteins; 0/Sodium Channels; 0/sodium channel protein type 5 subunit alpha

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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