Mesh : Humans Female Male Cadherins / genetics Sulfate Transporters / genetics Connexin 26 / genetics Cadherin Related Proteins Adult Adolescent Middle Aged Child Young Adult Vestibular Evoked Myogenic Potentials Membrane Transport Proteins / genetics Hearing Loss, Sensorineural / genetics physiopathology Vestibular Function Tests Child, Preschool Vestibule, Labyrinth / physiopathology Connexins / genetics

来  源:   DOI:10.1038/s41598-024-61442-3   PDF(Pubmed)

Abstract:
To investigate the association between hereditary hearing loss and vestibular function, we compared vestibular function and symptoms among patients with GJB2, SLC26A4, and CDH23 variants. Thirty-nine patients with sensory neural hearing loss (11 males and 28 females) with biallelic pathogenic variants in either GJB2, SLC26A4, or CDH23 were included in this study (13 GJB2, 15 SLC26A4, and 11 CDH23). The patients were examined using caloric testing and cervical and ocular vestibular-evoked myogenic potentials (cVEMP and oVEMP). We also compared vestibular function and symptoms between patients with these gene variants and 78 normal-hearing ears without vestibular symptoms as controls. The frequency of semicircular canal hypofunction in caloric testing was higher in patients with SLC26A4 variants (47%) than in those with GJB2 (0%) and CDH23 variants (27%). According to the cVEMP results, 69% of patients with GJB2 variants had saccular hypofunction, a significantly higher proportion than in those carrying other variants (SLC26A4, 20%; CDH23, 18%). In oVEMP, which reflects utricular function, no difference was observed in the frequency of hypofunction among the three genes (GJB2, 15%; SLC26A4, 40%; and CDH23, 36%). Hence, discernable trends indicate vestibular dysfunction associated with each gene.
摘要:
探讨遗传性耳聋与前庭功能的关系,我们比较了GJB2,SLC26A4和CDH23变异患者的前庭功能和症状.这项研究包括39例感觉神经听力损失患者(11例男性和28例女性),这些患者在GJB2,SLC26A4或CDH23中具有双等位基因致病性变异(13GJB2,15SLC26A4和11CDH23)。使用热量测试以及颈部和眼部前庭诱发的肌源性电位(cVEMP和oVEMP)对患者进行了检查。我们还比较了具有这些基因变异的患者和没有前庭症状的78只正常听力的耳朵作为对照的前庭功能和症状。在热量测试中,SLC26A4变体(47%)的患者半规管功能低下的频率高于GJB2(0%)和CDH23变体(27%)的患者。根据cVEMP结果,69%的GJB2变异患者有囊性功能减退,明显高于携带其他变体的比例(SLC26A4,20%;CDH23,18%)。在OVEMP中,反映了细胞功能,3种基因(GJB2,15%;SLC26A4,40%;CDH23,36%)的功能减退频率无差异.因此,可辨别的趋势表明与每个基因相关的前庭功能障碍。
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