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AGHJ：KDSR基因 突变导致对称性进行性红斑角化症

2017-06-05 MedSci MedSci原创

对称性进行性红斑角化症突变
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对称性进行性红斑角化症是常染色体显性遗传的角化异常性疾病，主要表现为双侧掌跖的进行性红斑角化，境界明显，病程慢。

近日，国际杂志《The American Journal of Human Genetics》上在线发表一项关于对称性进行性红斑角化症的研究。

对称性进行性红斑角化症是常染色体显性遗传的角化异常性疾病，主要表现为双侧掌跖的进行性红斑角化，境界明显，病程慢。

研究人员筛查了750名角化病的患者，包括鱼鳞病和红斑角化病表型，以寻找与角化病相关的已知突变。研究发现，有四名患者不含有任何已知的致病突变。并对其外显子组进行了测序。两名患者是复合杂合子，带有KDSR基因的有害突变和沉默突变。另外两名患者似乎只带有一个KDSR突变。通过分析其中一名患者的皮肤样本，研究人员发现，第9号外显子缺少所有可检测的KDSR转录本。这表明，其他等位基因可能存在内含子突变，影响第9号外显子的剪接或KDSR转录本的产生。免疫组织化学和酵母互补研究表明，突变导致KDSR功能缺陷。

研究中的两名患者已经用系统性异维甲酸治疗。研究人员报告称，这种治疗方法似乎已经解决了患者的鳞屑和红斑。

原始出处：

Lynn M. Boyden, Nicholas G. Vincent, Jing Zhou.et al. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.Volume 100, Issue 6, p978–984, 1 June 2017

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    2017-06-25 ligang4439

    #进行性#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1976601, encodeId=f11d19e660173, content=<a href='/topic/show?id=acd4943925f' target=_blank style='color:#2F92EE;'>#进行性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=94392, encryptionId=acd4943925f, topicName=进行性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=869698, createdName=ligang4439, createdTime=Sun Jun 25 09:33:00 CST 2017, time=2017-06-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1436099, encodeId=12211436099da, content=<a href='/topic/show?id=22f8e71238d' target=_blank style='color:#2F92EE;'>#红斑#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=77123, encryptionId=22f8e71238d, topicName=红斑)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Wed Jun 07 12:33:00 CST 2017, time=2017-06-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=207141, encodeId=cf2620e141ab, content=学习了谢谢分享。, beContent=null, objectType=article, channel=null, level=null, likeNumber=67, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=00501987275, createdName=130****4638, createdTime=Tue Jun 06 07:45:49 CST 2017, time=2017-06-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=206999, encodeId=4f0b206999dd, content=学习了分享了, beContent=null, objectType=article, channel=null, level=null, likeNumber=60, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=387d1660055, createdName=dhzzm, createdTime=Mon Jun 05 23:04:28 CST 2017, time=2017-06-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=206968, encodeId=325120696864, content=学习了新知识。, beContent=null, objectType=article, channel=null, level=null, likeNumber=3, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Mon Jun 05 22:17:21 CST 2017, time=2017-06-05, status=1, ipAttribution=)]
    2017-06-07 zhouqu_8

    #红斑#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1976601, encodeId=f11d19e660173, content=<a href='/topic/show?id=acd4943925f' target=_blank style='color:#2F92EE;'>#进行性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=94392, encryptionId=acd4943925f, topicName=进行性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=869698, createdName=ligang4439, createdTime=Sun Jun 25 09:33:00 CST 2017, time=2017-06-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1436099, encodeId=12211436099da, content=<a href='/topic/show?id=22f8e71238d' target=_blank style='color:#2F92EE;'>#红斑#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=77123, encryptionId=22f8e71238d, topicName=红斑)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Wed Jun 07 12:33:00 CST 2017, time=2017-06-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=207141, encodeId=cf2620e141ab, content=学习了谢谢分享。, beContent=null, objectType=article, channel=null, level=null, likeNumber=67, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=00501987275, createdName=130****4638, createdTime=Tue Jun 06 07:45:49 CST 2017, time=2017-06-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=206999, encodeId=4f0b206999dd, content=学习了分享了, beContent=null, objectType=article, channel=null, level=null, likeNumber=60, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=387d1660055, createdName=dhzzm, createdTime=Mon Jun 05 23:04:28 CST 2017, time=2017-06-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=206968, encodeId=325120696864, content=学习了新知识。, beContent=null, objectType=article, channel=null, level=null, likeNumber=3, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Mon Jun 05 22:17:21 CST 2017, time=2017-06-05, status=1, ipAttribution=)]
    2017-06-06 130****4638

    学习了谢谢分享。

    0

  4. [GetPortalCommentsPageByObjectIdResponse(id=1976601, encodeId=f11d19e660173, content=<a href='/topic/show?id=acd4943925f' target=_blank style='color:#2F92EE;'>#进行性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=94392, encryptionId=acd4943925f, topicName=进行性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=869698, createdName=ligang4439, createdTime=Sun Jun 25 09:33:00 CST 2017, time=2017-06-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1436099, encodeId=12211436099da, content=<a href='/topic/show?id=22f8e71238d' target=_blank style='color:#2F92EE;'>#红斑#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=77123, encryptionId=22f8e71238d, topicName=红斑)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Wed Jun 07 12:33:00 CST 2017, time=2017-06-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=207141, encodeId=cf2620e141ab, content=学习了谢谢分享。, beContent=null, objectType=article, channel=null, level=null, likeNumber=67, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=00501987275, createdName=130****4638, createdTime=Tue Jun 06 07:45:49 CST 2017, time=2017-06-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=206999, encodeId=4f0b206999dd, content=学习了分享了, beContent=null, objectType=article, channel=null, level=null, likeNumber=60, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=387d1660055, createdName=dhzzm, createdTime=Mon Jun 05 23:04:28 CST 2017, time=2017-06-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=206968, encodeId=325120696864, content=学习了新知识。, beContent=null, objectType=article, channel=null, level=null, likeNumber=3, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Mon Jun 05 22:17:21 CST 2017, time=2017-06-05, status=1, ipAttribution=)]
    2017-06-05 dhzzm

    学习了分享了

    0

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    2017-06-05 惠映实验室

    学习了新知识。

    0