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Clinica Chimica Acta：1例乙基丙二酸脑病患者新纯合无义变异的鉴定及基因型-表型谱

2020-07-19 MedSci原创 MedSci原创

鉴定；基因型
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乙基丙二酸脑病(EE)是一种由ETHE1基因突变引起罕见的破坏性神经退行性疾病。它的特征是早发性脑病，慢性腹泻，瘀斑，体位性肢端氰症和体液中甲基丁二酸，乳酸和乙基丙二酸含量高。

乙基丙二酸脑病(EE)是一种由ETHE1基因突变引起罕见的破坏性神经退行性疾病。它的特征是早发性脑病，慢性腹泻，瘀斑，体位性肢端氰症和体液中甲基丁二酸，乳酸和乙基丙二酸含量高。 在这项研究中，我们报告了一名通过新生儿筛查鉴定出的EE患者，并通过靶向下一代测序（NGS）证实了诊断。患者表现为复发性瘀点、间歇性黄疸、长期腹泻和发育迟缓。基因检测发现了纯合无义变异c.295C> T (p. Q99*)，在ETHE1基因中。对在其他EE患者中观察到的所有已知ETHE1变异进行了回顾。此外，研究还发现ETHE1截断型的患者可能表现出更早的病理症状和更严重的临床表现。最后，研究确定了一种新的无义变体，支持并扩展了我们目前对ETHE1变体谱的认识。这个新的变异也加深了我们对患者基因型-表现型关联的理解。

原始出处：

YilunTao，DongHan，Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review

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    2020-10-06 kzlchina

    #基因型#

    0

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    2020-11-21 windight

    #CTA#

    0

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    2020-12-30 showtest

    #脑病#

    0

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    2020-07-21 12498dabm77暂无昵称

    #变异#

    0

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    2020-07-21 tastas

    #表型#

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=1890873, encodeId=73da18908e31b, content=<a href='/topic/show?id=742341e1782' target=_blank style='color:#2F92EE;'>#基因型#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41717, encryptionId=742341e1782, topicName=基因型)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f984116, createdName=kzlchina, createdTime=Tue Oct 06 10:04:03 CST 2020, time=2020-10-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849969, encodeId=29c8184996942, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Sat Nov 21 23:04:03 CST 2020, time=2020-11-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1666458, encodeId=42b11666458c2, content=<a href='/topic/show?id=55c6849451c' target=_blank style='color:#2F92EE;'>#脑病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=84945, encryptionId=55c6849451c, topicName=脑病)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=db0126060584, createdName=showtest, createdTime=Wed Dec 30 17:04:03 CST 2020, time=2020-12-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342712, encodeId=bd601342e1287, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=23, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=38102, encryptionId=34cb381023e, topicName=变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=78c32500188, createdName=12498dabm77暂无昵称, createdTime=Tue Jul 21 08:04:03 CST 2020, time=2020-07-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1535272, encodeId=82f715352e224, content=<a href='/topic/show?id=099f9020145' target=_blank style='color:#2F92EE;'>#表型#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=90201, encryptionId=099f9020145, topicName=表型)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9b6412593156, createdName=tastas, createdTime=Tue Jul 21 08:04:03 CST 2020, time=2020-07-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=803400, encodeId=f53b803400d1, content=挺好, beContent=null, objectType=article, channel=null, level=null, likeNumber=90, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20200720/972f8c2f32a64cd28f904bad3945efc9/3d1556a9e54b4781a5f4968d888e5874.jpg, createdBy=5d015401562, createdName=海明明, createdTime=Mon Jul 20 00:39:50 CST 2020, time=2020-07-20, status=1, ipAttribution=)]
    2020-07-20 海明明

    挺好

    0