非综合征型X连锁隐性遗传耳聋家系临床表型及遗传学特征分析

发布时间：2018-09-14 09:30

【摘要】：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。
[Abstract]:Objective to analyze the clinical and genetic characteristics of X-linked recessive hereditary deafness. Methods the clinical data of family members were collected by questionnaire, and audiological examination, specialized examination and overall physical examination were carried out, and the clinical audiological characteristics were analyzed and genetic map was drawn. The proband was screened for GJB2,GJB3 and mitochondrial sequence. Results A total of 28 family members, including 5 male patients, were found in the second, third and fourth generations. The deafness occurred at 0 to 5 years old. The deafness developed rapidly into severe to very severe sensorineural hearing loss with bilateral symmetry and high frequency reduction. The typical audiograms showed that 4 cases of postlingual deafness and 1 case of prelingual deafness failed to pass the neonatal hearing screening. According to the pedigree analysis, all the families were male with normal parents, which were in accordance with X linkage recessive genetic model, and the deafness gene screening of the proband was negative. Conclusion the clinical audiological and genetic characteristics of this family are in accordance with X linkage recessive inheritance, and the gene causing deafness in this family is further explored by exon sequencing.
【作者单位】：中南大学湘雅医院耳鼻咽喉头颈外科;耳鼻咽喉重大疾病研究湖南省重点实验室;中南大学医学遗传学国家重点实验室;新疆医科大学第一附属医院耳鼻咽喉科;
【基金】：国家自然科学基金项目(Grant No.81300833,81170923,81470705) 国家重大科学研究计划项目(Grant No.2014CB541702,2014CB943003) 湖南省自然科学基金(Grant No.13JJ4023)共同资助~~
【分类号】：R764.43

【相似文献】