X连锁隐性非综合征型低频神经性听力减退的大家系报道

目的 探讨和分析低频神经性听力减退的遗传学因素。方法 从先证者出发，调查一个家系发病情况；应用Cyrillic 2.1软件绘制系谱图；通过系谱图分析遗传学特征，通过临床检查分析疾病的表型特征。结果 调查现存家系成员101人，获得43人的临床听力学资料。43人中有6人被诊断为低频神经性听力减退，均为男性，年龄18－26岁；患者仅以听力减退为单一症状；临床表型特征为轻、中、重度及极重度听力损失，听性脑干反应均未引出，畸变产物耳声发射部分引出；患者发病年龄在10－16岁之间。结论 本研究发现了一个5代相传的遗传性聋大家系，遗传特征是以男性发病为主的X连锁隐性遗传。该家系的发现提示低频神经性听力减退可以是由遗传因素造成的。

A report on a large family with X-linked recessive nonsyndromic hereditary low frequency neuropathic hearing impairment]

OBJECTIVE: To analyze the genetic causes of low frequency neuropathic hearing impairment. METHODS: Using the network established by our institute, the proband of the low frequency neuropathic hearing loss pedigree was found. Then, investigation was carried out in the family from the proband. Cyrillic 2.1 software was set up to draw the pedigree and genetic characterization and phenotypes were analyzed in this family. RESULTS: One-hundred and one alive family members were investigated and the clinic audiologic examinations were performed in 43 of 101 individuals. Six of forty-three individuals appeared to be low frequency neuropathic hearing loss and all patients were males without systemic disorders except hearing loss. The clinic phenotypes were mild, middle, severe and profound hearing loss with disappearing of the auditory brainstem response(ABR) and partial normal results of distortion product otoacoustic emission (DPOAE) in the affected individuals. The onset of hearing loss was at 10-16 years old and the age of all patients was arranged from 18 to 26 years old. CONCLUSION: A large five generations family with hereditary low frequency neuropathic hearing impairment was found in our study. The genetic pattern in this family is male dominant X-linked recessive (XR) nonsyndromic hearing loss. Our findings suggest that some low frequency neuropathic disorders might be attributed to genetic factors.