Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation
Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation
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DOI：
10.1097/01.mao.0000185062.12458.87
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发表时间：
2005-09-01
影响因子：
2.1
通讯作者：
Cremers, CWRJ
中科院分区：
文献类型：
--
作者：
Kemperman, MH;De Leenheer, EMR;Cremers, CWRJ
目的：进行遗传分析，并分析耳蜗前庭功能障碍的特点，在一个新发现的荷兰家庭与非综合征型常染色体显性遗传性听力障碍（DFNA 9）。研究设计：遗传分析进行微卫星标记和单核苷酸多态性。收集听力数据并进行纵向分析。将结果与之前确定的P51 S COCH突变携带者（n = 74）中获得的结果进行比较。特别关注年龄相关特征的比较，如进行性听力损失和前庭损害。设置：三级转诊中心。患者：来自荷兰家族的G88 E COCH突变携带者。主要结果测量：研究携带G88 E COCH突变的DFNA 9家族的临床特征，并将其与携带P51 S/COCH突变的患者的症状进行比较。结果：G88 E突变携带者的纯音阈值、音素识别分数和前庭反应与先前在P51 S突变携带者中建立的基本相似。G88 E突变携带者的听力从46岁到49岁开始恶化，而前庭功能的恶化从大约46岁开始。在P51 S突变携带者中，前庭损伤开始较早，大约在34岁时。然而，G88 E突变携带者的发病年龄差异不显着。值得注意的是，在40至56岁的年龄范围内，G88 E突变携带者发生完全前庭反射消失的患者比例明显低于P51 S突变携带者。除了在40至56岁之间前庭反射消失的频率明显较低外，在COCH基因中G88 E和P51 S突变的携带者之间没有表型差异。
Objectives: To perform genetic analysis and to analyze cochleovestibular impairment features in a newly identified Dutch family with nonsyndromic autosomal dominant hearing impairment (DFNA9).Study Design: Genetic analysis was performed using microsatellite markers and single nucleotide polymorphisms. Audiometric data were collected and analyzed longitudinally. Results were compared with those obtained in previously identified P51S COCH mutation carriers (n = 74). Special attention was also given to a comparison of age-related features such as progressive hearing loss and vestibular impairment.Setting: Tertiary referral center.Patients: G88E COCH mutation carriers from a Dutch family.Main Outcome Measures: The study of clinical features of a DFNA9 family carrying a G88E COCH mutation and to compare this to the symptoms of those carrying a P51S/COCH mutation.Results: Pure-tone thresholds, phoneme recognition scores, and vestibular responses of the G88E mutation carriers were essentially similar to those previously established in the P51S mutation carriers. Hearing started to deteriorate in G88E mutation carriers from age 46 to 49 years and onward, whereas deterioration of vestibular function started from approximately age 46 years. In the P51S mutation carriers, vestibular impairment started earlier, at approximately age 34 years. However, the difference in age of onset with the G88E mutation carriers was not significant. Remarkably, the proportion of patients who developed complete vestibular areflexia within the age range of 40 to 56 years was significantly lower for the G88E mutation carriers than for the P51S mutation carriers.Conclusion: Apart from a significantly lower frequency of vestibular areflexia between the ages of 40 and 56 years, there are no phenotypic differences between carriers of the G88E and P51S mutations in the COCH gene.