Han Ji Hyuk, Bae Seong Hoon, Joo Sun Young, Kim Jung Ah, Kim Se Jin, Jang Seung Hyun, Won Dongju, Gee Heon Yung, Choi Jae Young, Jung Jinsei, Kim Sung Huhn
Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.
Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.
J Clin Med. 2024 Mar 29;13(7):2001. doi: 10.3390/jcm13072001.
The vestibular phenotypes of patients with genetic hearing loss are poorly understood. we performed genetic testing including exome sequencing and vestibular function tests to investigate vestibular phenotypes and functions in patients with genetic hearing loss. 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 and , 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 ( = 0.011). The genes, including , , , , , , , , and , were heterogeneously associated with abnormalities in the vestibular function test. In conclusion, diverse vestibular symptoms are commonly concomitant with genetic hearing loss and are easily overlooked.
遗传性听力损失患者的前庭表型了解甚少。我们进行了包括外显子组测序和前庭功能测试在内的基因检测，以研究遗传性听力损失患者的前庭表型和功能。在627名患者中，143名（22.8%）有前庭症状。143名患者中有45名（31.5%）确认存在基因变异。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 和 。在前庭症状经基因确认和未经确认的两组中，前庭症状大多为眩晕型，反复发作，持续数小时。分别有42.0%、16.3%、57.8%和85.0%的患者在冷热试验、视频头脉冲试验、颈前庭诱发肌源性电位和眼前庭诱发肌源性电位测试中出现前庭功能下降。冷热试验显示，常染色体隐性个体的异常结果发生率显著高于常染色体显性个体（ = 0.011）。包括 、 、 、 、 、 、 、 和 在内的基因与前庭功能测试异常存在异质性关联。总之，多种前庭症状常与遗传性听力损失并存，且容易被忽视。
