Lemaire Francois X, Feenstra Louw, Huygen Patrick L M, Fransen Erik, Devriendt Koen, Van Camp Guy, Vantrappen Greet, Cremers Cor W R J, Wackym Phillip A, Koss John C
Department of Otorhinolaryngology and Head and Neck Surgery, University Hospitals Leuven, Belgium.
Otol Neurotol. 2003 Sep;24(5):743-8. doi: 10.1097/00129492-200309000-00009.
To evaluate audiometric and vestibular signs and symptoms in a new DFNA9 family.
Tertiary referral centers.
A multigeneration Belgian family with late-onset progressive sensorineural hearing loss and concomitant ves-tibular impairment with an autosomal dominant pattern of inheritance underwent clinical and genetic evaluation. Medical history was recorded. Blood samples were taken for genetic linkage and mutation analyses. Pure-tone audiometry, speech audiometry and vestibular examinations were performed. Onset and progression in hearing impairment were evaluated with linear regression analysis of longitudinal threshold-on-age data.
Linkage to DFNA9 was confirmed and mutation analysis revealed a P51S mutation in the COCH gene. Several patients had a Ménière's-like presentation. All patients developed late-onset progressive sensorineural hearing loss eventually leading to severe deafness and vestibular failure.
评估一个新的DFNA9家系的听力学和前庭体征及症状。
三级转诊中心。
一个具有常染色体显性遗传模式的迟发性进行性感音神经性听力损失并伴有前庭损害的比利时多代家系接受了临床和基因评估。记录病史。采集血样进行基因连锁和突变分析。进行纯音听力测定、言语听力测定和前庭检查。通过对纵向年龄阈值数据进行线性回归分析来评估听力损害的发病和进展情况。
证实与DFNA9连锁，突变分析显示COCH基因存在P51S突变。数名患者有梅尼埃病样表现。所有患者均发生迟发性进行性感音神经性听力损失，最终导致重度耳聋和前庭功能衰竭。
