Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family
Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family
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中国家庭中由新型复合杂合 KCNQ1 突变引起的 Jervell 和 Lange-Nielsen 综合征
DOI：
10.1155/2020/3569359
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发表时间：
2020-05-16
影响因子：
3.1
通讯作者：
Kong, Wei-Jia
中科院分区：
文献类型：
--
作者：
Qiu, Yue;Chen, Sen;Kong, Wei-Jia
Jervell - lge - nielsen综合征（JLNS）是一种罕见但严重的常染色体隐性遗传病，其特征是深度先天性耳聋和心电图波形的QTc间隔延长（大于500毫秒）。全球JLNS患病率约为1/100万~ 1/20万。然而，超过25%的JLNS患者发生了含有麻醉的各种触发因素的心源性猝死。约90%的JLNS病例由KCNQ1基因突变引起。在这里，我们使用下一代测序（NGS），确定了KCNQ1基因中两个突变c.1741A>T（新）和c.477+5G> a（已知）的复合杂合性，这可能是JLNS的致病原因，这表明聋儿心脏事件的高风险。在人工耳蜗植入（CI）的帮助下，该患者的听力明显改善。但在CI手术结束后，在麻醉触发下发生了危及生命的心律失常。我们的研究结果扩展了KCNQ1基因突变谱，并有助于耳鼻喉科医生（特别是人工耳蜗植入团队）对诊断为JLNS的聋儿的管理。
Jervell and Lange-Nielsen syndrome (JLNS) is a rare but severe autosomal recessive disease characterized by profound congenital deafness and a prolonged QTc interval (greater than 500 milliseconds) in the ECG waveforms. The prevalence of JLNS is about 1/1000000 to 1/200000 around the world. However, exceed 25% of JLNS patients suffered sudden cardiac death with kinds of triggers containing anesthesia. Approximately 90% of JLNS cases are caused by KCNQ1 gene mutations. Here, using next-generation sequencing (NGS), we identified a compound heterozygosity for two mutations c.1741A>T (novel) and c.477+5G>A (known) in KCNQ1 gene as the possible pathogenic cause of JLNS, which suggested a high risk of cardiac events in a deaf child. The hearing of this patient improved significantly with the help of cochlear implantation (CI). But life-threatening arrhythmias occurred with a trigger of anesthesia after the end of the CI surgery. Our findings extend the KCNQ1 gene mutation spectrum and contribute to the management of deaf children diagnosed with JLNS for otolaryngologists (especially cochlear implant teams).