小说KCNQ1和HERG错义突变在荷兰长qt的家庭。
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Jongbloed RJ,王尔德AA, Geelen杰,Doevendans P, Schaap C, Van Langen我范Tintelen JP, Cobben JM, Beaufort-Krol GC, Geraedts JP,史密兹HJ
小说KCNQ1和HERG错义突变在荷兰长qt的家庭。
哼Mutat。1999; 13 (4): 301 - 10。
- PubMed ID
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10220144 (在PubMed]
- 文摘
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先天性长QT综合征(cLQTS) electrocardiographically长QT间隔和多态室性心律失常(带条de同构)。这些心律失常可能导致复发性晕厥发作或猝死。LQTS可以发生作为一个常染色体显性(Romano Ward)或作为一个常染色体隐性障碍(Jervell和Lange-Nielsen综合症)。至少五个基因的突变与LQTS有关。四个基因,编码心脏离子通道,已确定。最常见的形式的LQTS是由于离子通道基因突变KCNQ1和HERG。我们已经筛选24荷兰LQTS家庭KCNQ1和HERG基因突变。十四个错义突变被确认。八错义突变的小说:三在HERG KCNQ1和5。小说错义突变在KCNQ1 Y184S、S373P W392R和新颖的错义突变HERG A558P, R582C, G604S T613M, F640L。 The KCNQ1 mutation G189R and the HERG mutation R582C were detected in two families. The pathogenicity of the mutations was based on segregation in families, absence in control individuals, the nature of the amino acid substitution, and localization in the protein. Genotype-phenotype studies indicated that auditory stimuli as trigger of cardiac events differentiate LQTS2 and LQTS1. In LQTS1, exercise was the predominant trigger. In addition, a number of asymptomatic gene defect carriers were identified. Asymptomatic carriers are still at risk of the development of life-threatening arrhythmias, underlining the importance of DNA analyses for unequivocal diagnosis of patients with LQTS.