目的分析一个X连锁隐性遗传性耳聋家系的临床特征及遗传学规律。方法通过问卷调查,收集家系成员临床资料,并进行听力学检测、专科检查及全面体查,对临床听力学特征进行分析并绘制遗传图谱,并对先证者进行GJB2、GJB3以及线粒体全序列进行筛查。结果家系成员共28人,其中男性患者5人,分布于第二、三及四代,耳聋发生于0~5岁,迅速进展为双侧对称性中高频下降的重度至极重度感音神经性听力下降,典型听力图表现为特征性的‘U’型或陡降型。4例为语后聋,1例语前聋患儿未能通过新生儿听力筛查。根据系谱图分析,该家系均为男性患病,双亲正常,符合X连锁隐性遗传模式,同时先证者耳聋基因筛查亦为阴性。结论本家系的临床听力学及遗传学特征分析符合X连锁隐性遗传,进一步将通过外显子测序探索该家系耳聋致病基因。 Objective To analyze the clinical characteristics and genetics of a X-linked recessive deafness pedigree. Methods The clinical data of family members were collected through questionnaires, and audiological examination, specialist examination and comprehensive physical examination were conducted. The clinical audiological characteristics were analyzed and the genetic map was drawn. The probands were subjected to GJB2, GJB3 and complete mitochondrial sequence Screening. Results A total of 28 pedigrees, of which 5 male patients, distributed in the second, third and fourth generation, deafness occurred in 0 to 5 years old, the rapid progress of bilateral symmetry in high and low frequency of severe to extremely severe sensorineural hearing Decline, the typical audiogram showed a characteristic ’U’ type or steep drop. 4 cases of deafness after language, 1 case of prelingual deaf children failed to pass the neonatal hearing screening. According to the pedigree analysis, the pedigrees were both male patients with normal parents, consistent with the X-linked recessive genetic model, and proband deafness gene screening was also negative. Conclusion The clinical audiology and genetic characteristics of this pedigree are in line with the X-linked recessive inheritance, and the deafness-causing genes of this family will be further explored by exon sequencing.