目的采用高通量测序技术,对一个综合征型耳聋家系的致病变异进行鉴定。方法详细询问一综合征型耳聋家系的病史及家族史,绘制家系图。对该家系进行听力学检查,采用全外显子组测序及生物信息学分析,筛选疑似致病变异,使用Sanger测序进行...目的采用高通量测序技术,对一个综合征型耳聋家系的致病变异进行鉴定。方法详细询问一综合征型耳聋家系的病史及家族史,绘制家系图。对该家系进行听力学检查,采用全外显子组测序及生物信息学分析,筛选疑似致病变异,使用Sanger测序进行变异共分离验证,并通过转录组测序探究内含子对剪切的影响。结果该家系中先证者(男性,2岁2个月)患有听神经病,伴有发育缓慢、肌无力、癫痫发作等症状。患者携带NARS2(NM_024678.6)c.[779A>C];[372+3A>G]复合杂合变异,其中c.779A>C p.(Glu260Ala)遗传自父亲,c.372+3A>G遗传自母亲,两变异均未见文献报道或数据库收录。转录组测序结果表明c.372+3A>G变异会导致转录跳过第三个外显子。依据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)相关指南将c.779A>C变异及c.372+3A>G变异评级为可能致病。基于患者表型及基因检测结果,该患者诊断为联合氧化磷酸化缺乏症24型。结论NARS2基因致病变异可能是该患者的致病原因,新变异的检出丰富了NARS2基因的变异谱,为进一步明确NARS2与联合氧化磷酸化缺乏症24型的关系提供了参考依据。展开更多
AI has a long tradition of borrowing insights from psychology.There is also a voice of embracing ontogenetic elements in Al since ontogenetically earlier developing subsystems look easier to be the target of computati...AI has a long tradition of borrowing insights from psychology.There is also a voice of embracing ontogenetic elements in Al since ontogenetically earlier developing subsystems look easier to be the target of computational modeling.But due to be the fundamental difference between natural organisms and digital computers on the hardware level,this analogy does not always hold.For instance,as reported(Carey The origin of concepts,Oxford University Press,Oxford,2009a),(Carey in JP 106:220-254,2009b)ontogeny about the development of the cognitive mechanism cannot be smoothly mapped onto an AI context,although many of her psychologi-cal/philosophical insights,especially the indispensability of a quasi-phenomenologi-cal interface for manipulating numerical concepts,could still be kept.展开更多
文摘目的采用高通量测序技术,对一个综合征型耳聋家系的致病变异进行鉴定。方法详细询问一综合征型耳聋家系的病史及家族史,绘制家系图。对该家系进行听力学检查,采用全外显子组测序及生物信息学分析,筛选疑似致病变异,使用Sanger测序进行变异共分离验证,并通过转录组测序探究内含子对剪切的影响。结果该家系中先证者(男性,2岁2个月)患有听神经病,伴有发育缓慢、肌无力、癫痫发作等症状。患者携带NARS2(NM_024678.6)c.[779A>C];[372+3A>G]复合杂合变异,其中c.779A>C p.(Glu260Ala)遗传自父亲,c.372+3A>G遗传自母亲,两变异均未见文献报道或数据库收录。转录组测序结果表明c.372+3A>G变异会导致转录跳过第三个外显子。依据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)相关指南将c.779A>C变异及c.372+3A>G变异评级为可能致病。基于患者表型及基因检测结果,该患者诊断为联合氧化磷酸化缺乏症24型。结论NARS2基因致病变异可能是该患者的致病原因,新变异的检出丰富了NARS2基因的变异谱,为进一步明确NARS2与联合氧化磷酸化缺乏症24型的关系提供了参考依据。
基金supported by National Natural Science Foundation(Grant Number:L2124040).
文摘AI has a long tradition of borrowing insights from psychology.There is also a voice of embracing ontogenetic elements in Al since ontogenetically earlier developing subsystems look easier to be the target of computational modeling.But due to be the fundamental difference between natural organisms and digital computers on the hardware level,this analogy does not always hold.For instance,as reported(Carey The origin of concepts,Oxford University Press,Oxford,2009a),(Carey in JP 106:220-254,2009b)ontogeny about the development of the cognitive mechanism cannot be smoothly mapped onto an AI context,although many of her psychologi-cal/philosophical insights,especially the indispensability of a quasi-phenomenologi-cal interface for manipulating numerical concepts,could still be kept.
