Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Department of Otorhinolaryngology, Distinct HealthCare, Wuhan, China.
Neural Plast. 2020 May 16;2020:3569359. doi: 10.1155/2020/3569359. eCollection 2020.
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 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 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 gene mutation spectrum and contribute to the management of deaf children diagnosed with JLNS for otolaryngologists (especially cochlear implant teams).
杰弗利-兰格-尼尔森综合征（JLNS）是一种罕见但严重的常染色体隐性遗传病，其特征是心电图波形中存在严重的先天性耳聋和延长的 QTc 间期（大于 500 毫秒）。JLNS 的患病率约为全球每 10 万至 20 万人中有 1 例。然而，超过 25%的 JLNS 患者在各种诱因（包括麻醉）下发生心脏性猝死。大约 90%的 JLNS 病例是由基因突变引起的。在这里，我们使用下一代测序（NGS）技术，发现基因中的两个突变 c.1741A>T（新）和 c.477+5G>A（已知）的复合杂合性可能是 JLNS 的致病原因，这表明一名耳聋儿童发生心脏事件的风险很高。在接受人工耳蜗植入（CI）治疗后，该患者的听力显著改善。但在 CI 手术后结束时，麻醉作为诱因导致危及生命的心律失常发生。我们的发现扩展了 基因的突变谱，并有助于管理诊断为 JLNS 的耳聋儿童，为耳鼻喉科医生（特别是人工耳蜗植入团队）提供了帮助。
