Pauw Robert Jan, Huygen Patrick L M, Thys Melissa, Van Camp Guy, Joosten Frank B M, Cremers Cor W R J
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Am J Med Genet A. 2007 Jul 15;143A(14):1613-22. doi: 10.1002/ajmg.a.31807.
This study reports on a clinical investigation of a Dutch family that shows suggestive linkage to OTSC7. Cross-sectional as well as longitudinal analyses of audiometric data were performed. Also, high-resolution computed tomography (CT) images of the temporal bones from genetically affected family members were obtained to study the incidence and extent of otospongiotic foci. Audiometric data showed a considerable degree of phenotypic variability. Cross-sectional regression analysis did not show age-dependent progression of bone conduction (BC), air conduction (AC), and air-bone gap (ABG) levels. Longitudinal analysis of audiometric follow-up data of one family member showed age-dependent progression of AC, BC, and ABG levels. High-resolution CT images revealed an otospongiotic focus in six of six (100%) clinically affected individuals that carried the disease haplotype. In none of the clinically unaffected family members that showed linkage to OTSC7, an otospongiotic focus was detected by CT. In conclusion, hearing impairment in the present otosclerosis family seems to be variable in terms of onset age and level of progression. Long-term audiometric data of one patient proved to be valuable in understanding progression of hearing impairment in this individual. The detection rate of otospongiotic foci in our study group is similar compared to previous reports on CT data in consecutive otosclerosis patients who had stapes replacing surgery.
本研究报告了一个与OTSC7显示出可能连锁关系的荷兰家族的临床调查情况。对听力测定数据进行了横断面分析和纵向分析。此外，获取了受基因影响的家族成员颞骨的高分辨率计算机断层扫描（CT）图像，以研究耳海绵化病灶的发生率和范围。听力测定数据显示出相当程度的表型变异性。横断面回归分析未显示骨传导（BC）、气传导（AC）和气骨导差（ABG）水平随年龄的进展情况。对一名家族成员听力随访数据的纵向分析显示，AC、BC和ABG水平随年龄进展。高分辨率CT图像显示，在携带疾病单倍型的6名（100%）临床受累个体中均发现了耳海绵化病灶。在与OTSC7显示连锁关系的临床未受累家族成员中，CT均未检测到耳海绵化病灶。总之，在目前的耳硬化症家族中，听力障碍在发病年龄和进展程度方面似乎存在差异。一名患者的长期听力测定数据被证明对理解该个体听力障碍的进展情况很有价值。与之前关于接受镫骨置换手术的连续性耳硬化症患者CT数据的报告相比，我们研究组中耳海绵化病灶的检出率相似。
