Feng H F, Xu G E, Chen B, Sun S P, Zeng B P, Tang W X, Lu W
Department of Otorhinolaryngology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Precision Medicine Center, Academy of Medical Science, Zhengzhou University, Zhengzhou 450052, China.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Dec 7;57(12):1433-1441. doi: 10.3760/cma.j.cn115330-20221119-00694.
To screen the causative genes of five families with branchio-oto-renal syndrome (BORS) or branchio-oto syndrome(BOS) and to analyze the phenotypic characteristics and clinical management strategies of patients. Five families with BORS/BOR from December 2018 to September 2021 were recruited, information of patients, including family history and medical history, was collected, and genealogies were drawn. The examinations concerning audiology, nephrology, and radiology were performed on the affected individuals. Peripheral blood was obtained for DNA extraction, then next-generation sequencing technology was used to screen candidate variants associated with BORS/BOS. Based on patient's clinical results, the appropriate interventions were recommended and implemented. Eight individuals were diagnosed with BOS or BORS. Of the eight patients, all had hearing loss, preauricular pits and ear malformations, and only four presented with branchial cleft fistulae or cysts. Except for two patients(5-I-2, 5-II-2) who did not undergo renal examination, the remaining six lacked renal abnormalities. Genetic analysis identified four likely pathogenic or pathogenic variants (c.1715G>T, c.1140+1G>A, c.639G>C, c.1475+1G>C; NM_000503.6), and c.1715G>T was first reported in this study. Middle ear ossicular reconstruction was performed in 1-II-2,2-I-2 and 3-II-2, but did not yield the expected results; then hearing aids and cochlear implantation were recommended and achieved satisfactory results. Next-generation sequencing technology facilitates the diagnosis and genetic counseling of BORS/BOS. Hearing loss, preauricular pits, ear malformations and branchial cleft fistulae or cysts are the most common manifestations of patients in this study. Middle ear surgeries for improving hearing loss may have some limitations in BORS/BOS patients, and hearing aids and cochlear implantation can contribute to hearing gains.
筛选五例鳃耳肾综合征（BORS）或鳃耳综合征（BOS）家系的致病基因，并分析患者的表型特征及临床管理策略。招募了2018年12月至2021年9月期间的五例BORS/BOR家系，收集患者信息，包括家族史和病史，并绘制系谱图。对受累个体进行听力、肾脏和放射学检查。采集外周血进行DNA提取，然后使用二代测序技术筛选与BORS/BOS相关的候选变异。根据患者的临床结果，推荐并实施适当的干预措施。八名个体被诊断为BOS或BORS。在这八名患者中，均有听力损失、耳前瘘管和耳部畸形，只有四名患者出现鳃裂瘘管或囊肿。除两名患者（5-I-2、5-II-2）未进行肾脏检查外，其余六名患者无肾脏异常。基因分析鉴定出四个可能致病或致病的变异（c.1715G>T、c.1140+1G>A、c.639G>C、c.1475+1G>C；NM_000503.6），c.1715G>T为本研究首次报道。对1-II-2、2-I-2和3-II-2进行了中耳听骨链重建，但未取得预期效果；随后推荐并使用助听器和人工耳蜗植入，取得了满意的效果。二代测序技术有助于BORS/BOS的诊断和遗传咨询。听力损失、耳前瘘管、耳部畸形和鳃裂瘘管或囊肿是本研究中患者最常见的表现。改善听力损失的中耳手术在BORS/BOS患者中可能存在一定局限性，助听器和人工耳蜗植入有助于提高听力。
