目的:分析1例药物治疗无效的发育迟缓伴各种智力障碍和行为异常(DDVIBA)患儿，外显子测序TCF20基因单核苷酸变异，提高对基因变异在DDVIBA作用中的认识。方法:报道1例DDVIBA患者的临床表现, 外显子测序TCF20基因突变，并通过文献复习分析TCF20基因变异在DDVIBA中的作用。结果:1例7岁10月龄患儿因“与同伴交往欠佳5年，注意力不集中3年”就诊。心理评估为“智力发育异常伴注意力缺陷多动障碍”，诊断为DDVIBA，给予盐酸托莫西汀胶囊治疗无效，并出现窦性心动过速，室性期前收缩。外显子组测序结果提示TCF20基因新发c.1198C＞T杂合突变，Swiss-Model同源建模分析显示此变异导致TCF20基因突变产生截短蛋白。结论:TCF20基因新发c.1198C＞T杂合突变产生截短蛋白，可以导致DDVIBA。

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