一例Usher综合征患儿的致病基因变异分析

董佩;索利敏;范林静;贾薇;李通;张磊;薛金梅;赵长青;张亚茜;段建雄

1:山西医科大学第二医院耳鼻咽喉头颈外科山西省气道炎性疾病神经免疫研究省级重点培育实验室

2:山西国信凯尔医学检验所

摘要
目的 探讨一例听力下降患儿的遗传性致病原因。方法 详细询问先证者病史(女,4岁,双耳听力下降1月余)及家族史,绘制遗传图谱,行临床相关检查。采用新一代测序技术进行全外显子组测序,并根据ACMG(美国医学遗传学和基因组学学会)制定的标准指南对检出的突变进行致病性判读,结合患儿的临床表现及相关检查结果进行分析。结果 纯音测听示患儿双耳听力图呈下降型曲线,低频为轻度到中度听力下降,高频为重度到极重度听力下降;左右耳ABR反应阈分别为60、50 dB nHL;瞬态耳声发射双耳均未引出;畸变产物耳声发射右耳均未引出,左耳0.5 kHz引出,余未引出。眼底检查及颞骨CT均未见异常。全外显子测序结果显示患儿携带USH2A基因的c.13010C>T和c.11232-2A>G两个罕见突变。其中,c.13010C>T突变遗传自母亲,c.11232-2A>G突变遗传自父亲。父母听力正常。结论 USH2A基因的c.13010C>T和c.11232-2A>G突变位点为该患儿致病原因。
关键词
Usher综合征;基因检测;突变
基金项目(Foundation):
山西省重点研发计划项目(201803D31122);; 山西省留学人员科技活动择优资助项目(2019-39)
作者
董佩;索利敏;范林静;贾薇;李通;张磊;薛金梅;赵长青;张亚茜;段建雄
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