Pauw Robert J, Collin Rob W J, Huygen Patrick L M, Hoefsloot Lies H, Kremer Hannie, Cremers Cor W R J
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Audiol Neurootol. 2007;12(2):77-84. doi: 10.1159/000097794. Epub 2006 Dec 6.
The present study aims to report audiological and vestibular characteristics of a Dutch DFNA9 family with a novel mutation, G87W, in the LCCL domain of COCH. From the family with the novel G87W COCH mutation audiometric data were collected and analyzed longitudinally. Results were compared with those obtained in previously identified P51S COCH mutation carriers (n = 74) and with those obtained in G88E mutation carriers. Special attention was also given to a comparison of age-related features, such as progressive hearing loss and vestibular impairment. A novel mutation (G87W) in COCH is indicative of hearing impairment and vestibular dysfunction in the present family. Pure-tone thresholds, phoneme recognition scores, and vestibular responses of the G87W mutation carriers were essentially similar to those previously established in the P51S and G88E mutation carriers. Deterioration of hearing and vestibular function in the G87W mutation carriers started at the age of 43 years. Remarkably, similar to G88E mutation carriers, the proportion of patients over 40 years of age who developed complete vestibular areflexia was significantly lower for the G87W mutation carriers than for the P51S mutation carriers. In conclusion, the phenotype associated with the novel COCH (G87W) mutation is largely similar to that associated with the P51S and G88E mutation carriers. However, subtle differences in terms of onset age and rate of progression seem to exist.
本研究旨在报告一个荷兰DFNA9家系的听力学和前庭特征，该家系在COCH的LCCL结构域存在一种新的突变G87W。从携带新型G87W COCH突变的家系中收集听力测定数据并进行纵向分析。将结果与先前鉴定的P51S COCH突变携带者（n = 74）以及G88E突变携带者的结果进行比较。还特别关注了与年龄相关特征的比较，如进行性听力损失和前庭功能障碍。COCH中的一种新突变（G87W）表明该家系存在听力障碍和前庭功能障碍。G87W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P51S和G88E突变携带者中确定的结果基本相似。G87W突变携带者的听力和前庭功能恶化始于43岁。值得注意的是，与G88E突变携带者相似，G87W突变携带者中40岁以上出现完全前庭无反射的患者比例明显低于P51S突变携带者。总之，与新型COCH（G87W）突变相关的表型在很大程度上与P51S和G88E突变携带者相关的表型相似。然而，在发病年龄和进展速度方面似乎存在细微差异。
