Phenotype reveals genotype in a Greek long QT syndrome family
Phenotype reveals genotype in a Greek long QT syndrome family
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DOI：
10.1093/europace/eul012
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发表时间：
2006-04-01
期刊：
影响因子：
6.1
通讯作者：
Stefanadis, Christodoulos
中科院分区：
文献类型：
--
作者：
Anastasakis, Aris;Kotta, Christina-Maria;Stefanadis, Christodoulos
我们的目的是在一个有强有力证据的LQTS 1型（LQT 1）家系中验证Tong QT综合征（LQTS）基因型，该家系是基于迄今已建立的基因型-表型相关性。对KCNQ 1钾通道基因突变的基因检测显示，该家族三代人中存在A341 V突变。现有的基因型-表型相关性是正确的预测基因型的情况下，这个家庭，尽管没有以前报道的数据，希腊LQTS遗传库。因此，基因型-表型相关性往往是一个有用的工具，在管理LQTS患者和他们的家庭。
We aimed to verify the tong QT syndrome (LQTS) genotype in a family with strong evidence of LQTS type 1 (LQT1) on the basis of so far established genotype-phenotype correlations. Genetic testing for mutations in the KCNQ1 potassium channel gene revealed an A341V mutation in three generations of the family. Existing genotype-phenotype correlations were correctly predictive of the genotype in the case of this family, despite the fact that there are no previously reported data for the Greek LQTS genetic pool. Thus, genotype-phenotype correlations are often a helpful tool in the management of LQTS patients and their families.