一个中国河北省遗传性低频感音神经性耳聋家系临床表型及遗传学特征分析

Genetic and audiological characteristics of a Chinese family with autosamal dominant hereditary non-syndromic hearing loss

目的分析一个常染色体显性遗传性耳聋家系的临床听力学特征及遗传规律。方法对一个国人常染色体显性遗传低频感音神经性耳聋家系的资料进行了收集、整理及临床遗传学特征的分析。对家系成员进行调查并绘制系谱图。对调查的家系成员进行病史、体检、纯音测听、声导抗检查,两名患者进行耳声发射、听性脑干反应、前庭功能及颞骨CT扫描检查以排除听神经病及听觉系统的其他病变。结果该耳聋家系遗传方式为常染色体显性遗传,耳聋患者表现为一种迟发型的、渐进性的、以低频下降为主的听力损失,发病年龄介于10～25岁,早期以低频损失为主,听力曲线呈上升型,随着年龄增长逐渐累及全频听力,听力曲线由上升型变为平坦型。结论该耳聋家系为常染色体显性遗传方式,表现为低频感音神经性耳聋,通过全基因组扫描及连锁分析,有望发现新的低频感音神经性聋的相关基因。

Objective To investigate the phenotype and genetic characteristics of a large Chinese family with an autosomal-dominant inherited sensorineural hearing loss.Methods A large Chinese pedigree associated with an autosomal-dominant inherited low-frequency sensorineural hearing loss （LFSNHL） was investigated.After obtaining informed consent from all participants,medical and audiological examination were performed to rule out any syndromic hearing impairment.DPOAE,ABR and vestibular function evaluation and computed tomography scan of the temporal bone were carried out in 2 patients to exclude auditory neuropathy and other possible aural disorders.Results Proband of the family had been diagnosed with low-frequency sensorinerural hearing loss.A Chinese family HB-S037 with non-syndromic hearing loss were ascertained.The mode of inheritance in the family should be autosomal dominant based on the pedigree.Hearing impairment of affected members in family HB-S037occured between10 to 25 years of age,mainly affecting low frequencies （250 ～ 500 Hz）,yielding upsloping audiograms.Higher frequencies became involved with increasing age,thus producing flat-type audiograms.Conclusion A Chinese family with late-onset low-frequency senserineural hearing loss was clinically studied.The information should facilitate future gene scan and linkage analyses for novel relative genes contributing to low-frequency senserineural hearing loss.