Pauw Robert J, Huygen Patrick L M, Colditz Gordon M, Cremers Cor W R J
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Ann Otol Rhinol Laryngol. 2011 Jun;120(6):414-21. doi: 10.1177/000348941112000612.
We studied the clinical characteristics of an Australian family with an autosomal dominant sensorineural hearing impairment (DFNA9) caused by an I109N mutation in COCH.
Retrospective analyses of audiometric data from 8 mutation carriers of an Australian DFNA9 family with the I109N COCH mutation were performed. Cross-sectional hearing levels related to age, age-related typical audiograms, and speech recognition scores related to age and to the level of hearing impairment were investigated. Data were compared to those obtained in previously identified DFNA9 families with P51S, V66G, G87W, G88E, I109T, and C542F COCH mutations.
Deterioration of hearing in the I109N mutation carriers started before the age of 40 years. The audiometric characteristics of the I109N mutation carriers are essentially similar to those previously established in I109T mutation carriers and, to a lesser extent, in P51S, G87W, and G88E mutation carriers.
The phenotype associated with the I109N COCH mutation is largely similar to that associated with the I109T, P51S, G87W, and G88E mutation carriers. However, subtle differences seem to exist in terms of age of onset and rate of progression.
我们研究了一个澳大利亚家族的临床特征，该家族因COCH基因中的I109N突变导致常染色体显性遗传性感觉神经性听力损失（DFNA9）。
对一个携带I109N COCH突变的澳大利亚DFNA9家族的8名突变携带者的听力测定数据进行回顾性分析。研究了与年龄相关的横断面听力水平、年龄相关的典型听力图以及与年龄和听力损失程度相关的言语识别分数。将这些数据与先前鉴定的携带P51S、V66G、G87W、G88E、I109T和C542F COCH突变的DFNA9家族所获得的数据进行比较。
I109N突变携带者的听力在40岁之前开始恶化。I109N突变携带者的听力测定特征与先前在I109T突变携带者中确定的特征基本相似，在较小程度上与P51S、G87W和G88E突变携带者相似。
与I109N COCH突变相关的表型在很大程度上与与I109T、P51S、G87W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。
