Street Valerie A, Kallman Jeremy C, Strombom Paul D, Bramhall Naomi F, Phillips James O
V.M. Bloedel Hearing Research Center, Otolaryngology - HNS Department, University of Washington, Seattle, WA 98195-5060, USA.
J Vestib Res. 2008;18(1):51-8.
The inner ear contains the developmentally related cochlea and peripheral vestibular labyrinth. Given the similar physiology between these two organs, hearing loss and vestibular dysfunction may be expected to occur simultaneously in individuals segregating mutations in inner ear genes. Twenty-two different genes have been discovered that when mutated lead to non-syndromic autosomal dominant hearing loss. A review of the literature indicates that families segregating mutations in 13 of these 22 genes have undergone formal clinical vestibular testing. Formal assessment revealed vestibular dysfunction in families with mutations in ten of these 13 genes. Remarkably, only families with mutations in the COCH and MYO7A genes self-report considerable vestibular challenges. Families segregating mutations in the other eight genes do not self-report significant balance problems and appear to compensate well in everyday life for vestibular deficits discovered during formal clinical vestibular assessment. An example of a family (referred to as the HL1 family) with progressive hearing loss and clinically-detected vestibular hypofunction that does not report vestibular symptoms is described in this review. Notably, one member of the HL1 family with clinically-detected vestibular hypofunction reached the summit of Mount Kilimanjaro.
内耳包含与发育相关的耳蜗和外周前庭迷路。鉴于这两个器官之间相似的生理功能，在携带内耳基因突变的个体中，听力损失和前庭功能障碍可能会同时出现。已经发现22种不同的基因，当它们发生突变时会导致非综合征性常染色体显性听力损失。文献综述表明，在这22种基因中的13种发生突变的家系已经接受了正式的临床前庭测试。正式评估显示，在这13种基因中有10种发生突变的家系存在前庭功能障碍。值得注意的是，只有携带COCH和MYO7A基因突变的家系自我报告有相当大的前庭挑战。在其他8种基因发生突变的家系没有自我报告明显的平衡问题，并且在日常生活中似乎能很好地代偿在正式临床前庭评估中发现的前庭缺陷。本综述描述了一个患有进行性听力损失和临床检测到的前庭功能减退但未报告前庭症状的家系（称为HL1家系）。值得注意的是，HL1家系中一名临床检测到前庭功能减退的成员登上了乞力马扎罗山的顶峰。
