130例婴幼儿听力损失的听力学和基因学分析

Audiological and genetic studies on 130 infants with hearing loss

目的探讨0—3岁听障婴幼儿的基因学致聋因素，分析基因与环境致聋因素的相关性。方法对130例听障患儿进行了客观听力学评估，并进行线粒体DNA（mtDNA）12SrRNA、GJB2基因、SLC26A4基因检测。84例患儿完成了影像学评估。结果130例患儿中，前庭水管扩大综合征54例，听神经病7例。有明确高危因素患儿85例，占65．4％（85／130）；23例有耳毒性药物用药史，其中以庆大霉素居多；13例有家族史，2例家族中存在近亲结婚。基因检测结果显示130例患儿中，42例检测到SLC26A4基因致病突变，占32．3％（42／130）；6例患儿检测到GJB2基因致病突变，占4，6％（6／130）；130例患儿中未检测到mtDNA 12S rRNA C1494T以及A1555G突变。结论在0～3岁的婴幼儿听力筛查诊断中，36．9％的听障患儿为遗传因素致聋。早期进行听力诊断联合分子诊断可提早发现病因，有利于随后的干预和康复治疗，同时也有利于进行有效的遗传咨询。

Objective To investigate the genetic etiologies in the 0 -3 years old infants with hearing loss and to analyze the interaction between genetics and environmental factors. Methods Total of 130 infants were performed detailed audiological evaluation as well as the detection of the popular deafness gene mutations in GJB2 gene, SLC26A4 and mtDNA12SrRNA. Of them, 84 cases were performed the computer tomography or magnetic resonance imaging examinations. Results Of the 130 cases, 54 infants were diagnosed as large vestibular aqueduct syndrome, while seven of 130 were as auditory nenropathy and the others were diagnosed as sensorineural hearing loss. Considering of the risks of etiologies for hearing loss, 85 of them had the experiences of the high risk factors at birth（65.4% ,85/130）, while 23 of them had the exposure of aminoglycoside antibiotics, and 13 had the family history background as well as two cases were from the consanguineous families. In the causative genes screening, 42 infants were caused by the mutations of SLC26A4 gene （32. 3% ）, but 14 infants found the mutations in GJB2 gene （4. 6% ）, and no infants carried the mutation in mtDNA 12SrRNA 1555G and 1494T points in our studies. Conclusions In our studies, about 36. 9% infants heating loss cases can be found the mutations in SLC26A4 and GJB2 genes. It is essential to put the idea into the hearing evaluation combined with genetic testing for the diagnoses of hearing loss. It is also helpful for exploring the etiologies of hearing loss and performing the target genetic consulting for decreasing the prevalence of deafness in the future.