University of Liverpool, Faculty of Medical and Health Sciences, School of Medicine, UK.
Department of Audiology and Audiovestibular Medicine, Alder Hey Children's Hospital NHS Foundation Trust, Liverpool, UK.
J Int Adv Otol. 2024 Jan;20(1):85-88. doi: 10.5152/iao.2024.231284.
The gene MED13 participates in transcription. The MED13L gene is a paralog of MED13 that is involved in developmental gene expression. Mutations in the gene have been shown to result in a heterogenous phenotype affecting several physiological systems. Hearing loss has been reported very rarely, and vestibular weakness has never been reported in the condition. In this report, we present a mutation of MED13L in c.1162A > T (p.Arg388Ter), where we detail and describe a cochleovestibular phenotype with objective vestibulometry for the first time. The child showed bilateral sloping sensorineural hearing loss, a bilateral vestibular weakness, and an inner ear vestibular structural abnormality on imaging. Early intervention with hearing aids and vestibular rehabilitation led to a favorable outcome in terms of speech, communication, and balance. We emphasize the importance of comprehensive audiovestibular assessment in children diagnosed with MED13L mutations for effective management of these children.
基因 MED13 参与转录。MED13L 基因是 MED13 的一个旁系同源基因，参与发育基因表达。研究表明，该基因的突变会导致多种生理系统受到影响的异质性表型。该疾病很少报告听力损失，也从未报告过前庭功能减弱。在本报告中，我们报告了 MED13L 基因 c.1162A>T（p.Arg388Ter）的突变，我们首次详细描述了一种具有客观前庭测量的耳蜗前庭表型。患儿表现为双侧倾斜性感觉神经性听力损失、双侧前庭功能减弱和影像学显示内耳前庭结构异常。早期使用助听器和前庭康复治疗，在言语、交流和平衡方面取得了良好的效果。我们强调了对诊断为 MED13L 基因突变的儿童进行全面的听觉前庭评估的重要性，以便对这些儿童进行有效的管理。
