伴有新型KCNQ1及其他基因突变的耶尔韦尔和朗格-尼尔森综合征
Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations.
作者信息
Matsuda Shinichi, Ohnuki Yuko, Okami Mayuri, Ochiai Eriko, Yamada Shiro, Takahashi Kazumi, Osawa Motoki, Okami Kenji, Iida Masahiro, Mochizuki Hiroyuki
机构信息
Department of Pediatrics, Tokai University School of Medicine, Isehara, Japan.
Department of Medical Ethics, Tokai University School of Medicine, Isehara, Japan.
出版信息
Hum Genome Var. 2020 Oct 15;7:34. doi: 10.1038/s41439-020-00121-x. eCollection 2020.
We encountered a boy with Jervell and Lange-Nielsen syndrome (JLNS) with compound heterozygous mutations, maternal Trp248Phe and a novel paternal mutation, Leu347Arg. His father showed long QT (LQT) and arrhythmia. His mother was asymptomatic with no ECG abnormalities. The proband and his father had an additional mutation ( Thr372Met), which is reportedly related to SIDS. These results suggest that multiple gene mutations influence the phenotype of mutation-related arrhythmia.
我们遇到了一个患有Jervell和Lange-Nielsen综合征（JLNS）的男孩，其存在复合杂合突变，母亲的Trp248Phe突变和父亲的一个新突变Leu347Arg。他的父亲表现出长QT（LQT）和心律失常。他的母亲无症状，心电图无异常。先证者及其父亲还有另一个突变（Thr372Met），据报道该突变与婴儿猝死综合征有关。这些结果表明，多个基因突变会影响与突变相关的心律失常的表型。
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