PDF(Pubmed)
Abstract：
Background: The vestibular phenotypes of patients with genetic hearing loss are poorly understood. Methods: we performed genetic testing including exome sequencing and vestibular function tests to investigate vestibular phenotypes and functions in patients with genetic hearing loss. Results: Among 627 patients, 143 (22.8%) had vestibular symptoms. Genetic variations were confirmed in 45 (31.5%) of the 143 patients. Nineteen deafness genes were linked with vestibular symptoms; the most frequent genes in autosomal dominant and recessive individuals were COCH and SLC26A4, respectively. Vestibular symptoms were mostly of the vertigo type, recurrent, and persisted for hours in the genetically confirmed and unconfirmed groups. Decreased vestibular function in the caloric test, video head impulse test, cervical vestibular-evoked myogenic potential, and ocular vestibular-evoked myogenic potential was observed in 42.0%, 16.3%, 57.8%, and 85.0% of the patients, respectively. The caloric test revealed a significantly higher incidence of abnormal results in autosomal recessive individuals than in autosomal dominant individuals (p = 0.011). The genes, including SLC26A4, COCH, KCNQ4, MYH9, NLRP3, EYA4, MYO7A, MYO15A, and MYH9, were heterogeneously associated with abnormalities in the vestibular function test. Conclusions: In conclusion, diverse vestibular symptoms are commonly concomitant with genetic hearing loss and are easily overlooked.
摘要：
背景：对遗传性听力损失患者的前庭表型了解甚少。方法：我们进行了基因检测，包括外显子组测序和前庭功能测试，以调查遗传性耳聋患者的前庭表型和功能。结果:627例患者中,143（22.8%）有前庭症状。在143例患者中，有45例（31.5％）证实了遗传变异。19个耳聋基因与前庭症状相关；常染色体显性和隐性个体中最常见的基因分别是COCH和SLC26A4。前庭症状主要是眩晕型，经常性,并在基因确认和未经确认的组中持续数小时。在热量测试中前庭功能下降，视频头脉冲测试，颈前庭诱发的肌源性电位，眼前庭诱发的肌源性电位占42.0％，16.3%,57.8%,85.0%的病人,分别。热量测试显示，常染色体隐性遗传个体的异常结果发生率明显高于常染色体显性遗传个体（p=0.011）。基因，包括SLC26A4，COCH，KCNQ4,MYH9,NLRP3,EYA4,MYO7A,MYO15A,和MYH9均与前庭功能测试异常相关。结论：总之，不同的前庭症状通常伴随着遗传性听力损失，并且容易被忽视。
