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首页> 外文期刊>The Laryngoscope: A Medical Journal for Clinical and Research Contributions in Otolaryngology, Head and Neck Medicine and Surgery, Facial Plastic and Reconstructive Surgery .. >Phenotype of the first otosclerosis family linked to OTSC10.
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Phenotype of the first otosclerosis family linked to OTSC10.

机译：第一个与OTSC10相关的耳硬化症家族的表型。

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OBJECTIVES: To report on the audiometric findings in the first otosclerosis family linked to OTSC10. STUDY DESIGN: Retrospective cohort study. METHODS: A family study in a large otosclerosis family was performed, and a pedigree was constructed. Examination of all family members consisted of medical history guided by a questionnaire, pure-tone audiometry, otoscopy, and collection of blood samples for genetic linkage analysis. In addition, a selected group underwent stapedial reflex measurements and tympanometry. Cross-sectional as well as longitudinal analyses of audiometric data were performed. RESULTS: Eleven family members were identified as clinically affected and were all carriers of the disease haplotype. Twelve clinically unaffected family members carried the disease haplotype as well. Cross-sectional analyses of clinically affected family members showed no significant progression of air conduction (AC) thresholds, bone conduction (BC) thresholds, and air-bone gap (ABG) levels with increasing age. Longitudinal regression analyses in one family member revealed significant deterioration of AC thresholds at all frequencies. The BC thresholds showed a significant increase with advancing age at 0.5 kHz, 2 kHz, and 4 kHz. A significant progression of ABG was seen at 8 kHz. CONCLUSIONS: The intersubject variation, in terms of age of onset, level of progression, and audiogram configuration, was remarkable, probably due to reduced penetrance and variable expression of the disease. Long-term audiometric data in one patient, however, were useful to demonstrate progression of hearing impairment.
机译：目的：报告与OTSC10相关的第一个耳硬化症家族的听力检查结果。研究设计：回顾性队列研究。方法：在一个大的耳硬化症家族中进行了家族研究，并建立了血统书。对所有家庭成员的检查包括以问卷调查为指导的病史，纯音听力检查，耳镜检查以及为遗传连锁分析而采集的血液样本。此外，选定的一组进行了骨反射测量和鼓室测量。进行了听力测量数据的横截面和纵向分析。结果：确定有11个家庭成员受到临床影响，并且都是该疾病单倍型的携带者。十二个临床未受影响的家庭成员也携带该疾病单倍型。对受临床影响的家庭成员进行的横断面分析显示，随着年龄的增长，空气传导（AC）阈值，骨传导（BC）阈值和气骨间隙（ABG）水平没有显着进展。在一个家庭成员中进行的纵向回归分析显示，在所有频率下，AC阈值均显着降低。随着年龄的增长，BC阈值在0.5 kHz，2 kHz和4 kHz时显着增加。在8 kHz处观察到ABG的显着进展。结论：就发病年龄，进展水平和听力图配置而言，受试者间的差异是显着的，这可能是由于该疾病的外pen减少和表达变化所致。然而，一名患者的长期听力数据可用于证明听力障碍的进展。

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