Further characterization of the DFNA1 audiovestibular phenotype
Further characterization of the DFNA1 audiovestibular phenotype
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DOI：
10.1001/archotol.124.6.699
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发表时间：
1998-06-01
影响因子：
--
通讯作者：
León, PE
中科院分区：
文献类型：
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作者：
Lalwani, AK;Jackler, RK;León, PE
背景：一个常染色体显性遗传性耳聋是由果蝇透明基因的人类同源突变引起的。目的：通过全面的听前庭评估和颞骨计算机断层扫描，进一步确定DFNA1的表型。患者：1名患病儿童和2名患有透明基因突变的哥斯达黎加家族成年人。背景：加州大学旧金山分校医学中心。干预：耳科和神经耳科检查；纯音测听、言语测听和听力学测试；听觉诱发电位、耳蜗电和耳声发射；眼震电和前庭自转测试；结果：年龄最小的受试者为8岁男童，有轻度听力损失，腓骨反射完整，高频耳声发射正常，听觉诱发电位正常，耳蜗电表现与内淋巴积水相一致。这两名成年人有严重到严重的双侧感音神经性听力障碍。眼震图显示前庭功能正常。CT显示外耳、中耳和内耳结构正常。结论：这些结果提示该家系早期低频听力损失与内淋巴积水有关。因此，阐明透明基因在听力中的作用将有助于更好地理解内淋巴积水的机制。
Background: Autosomal dominant, nonsyndromic, hereditary hearing impairment in a large Costa Rican kindred is caused by a mutation in the human homolog of the Drosophila diaphanous gene.Objective: 70 further characterize the phenotype of DFNA1 with comprehensive audiovestibular evaluation and computed tomography of the temporal bone.Patients: One affected child and 2 affected adults of the Costa Rican kindred who harbor a mutation in the diaphanous gene.Setting: Medical Center at the University of California, San Francisco.Intervention: Otologic and neuro-otologic examination; pure tone audiometry, speech audiometry, and immitance testing; auditory evoked potentials, electrocochleography, and otoacoustic emissions; electronystagmography and vestibular autorotation tests; and computed tomography of the temporal bone.Results: The youngest subject, an 8-year-old boy, had a mild hearing loss, intact stapedial reflexes, otoacoustic emissions at high frequencies, normal auditory evoked potentials, and electrocochleographic findings consistent with endolymphatic hydrops. The two adults had severe to profound bilateral sensorineural hearing impairment. Electronystagmography disclosed normal vestibular function. Computed tomography demonstrated normal external, middle, and inner ear structures.Conclusions: These results suggest that the early low-frequency hearing loss in this family is associated with endolymphatic hydrops. Elucidation of the role of the diaphanous gene in hearing will therefore lead to a better understanding of the mechanism of endolymphatic hydrops.