Eur J Hum Genet:杂合 NR5A146,XY性发育障碍患者广义表型研究

2018-06-22 AlexYang MedSci原创

SF-1/NR5A1是肾上腺和性腺发育的一个转录调控因子。NR5A1致病变异能够引起性发育(DSD)障碍和肾上腺皮质功能减退,但是大多数受影响的个体只表现出广义的DSD/生殖表型。大多数NR5A1变异体外表现出病理性影响,但是通常情况下,杂合状态和野生型NR5A1并不表现出来。因此,NR5A1变异的基因型-表型相关性仍旧是一个未解决的问题。最近,有研究人员通过全外显子组测序分析了杂合子46,XY

SF-1/NR5A1是肾上腺和性腺发育的一个转录调控因子。NR5A1致病变异能够引起性发育(DSD)障碍和肾上腺皮质功能减退,但是大多数受影响的个体只表现出广义的DSD/生殖表型。大多数NR5A1变异体外表现出病理性影响,但是通常情况下,杂合状态和野生型NR5A1并不表现出来。因此,NR5A1变异的基因型-表型相关性仍旧是一个未解决的问题。

最近,有研究人员通过全外显子组测序分析了杂合子46,XY SF-1/NR5A1患者情况,并且基于选择的特定项目的DSD-和SF-1相关的基因的数据利用一种算法来进行分析。研究人员还评估了这些检测到的变异在文献和数据库中的临床意义,并且利用网络工具进行了生物信息分析。研究人员在4名 携带有杂合NR5A1致病变异的46,XY DSD受试者中,在18个基因中鉴定了19个潜在的有害的变异(每位患者1到7个)。研究人员在已知的与雄性性别决定和分化相关的基因框架中,给这些变异位点进行了相关阐释。

最后,研究人员指出,他们的结果表明了这些杂合NR5A1 46,XY DSD受试者的广义表型可以通过寡基因遗传模式进行很好的阐释,另外这些多重的、无害的变异位点也许对DSD表型具有贡献,并且对每一个杂合 SF-1/NR5A1 个体都是独一无二的。

原始出处:

Núria Camats, Mónica Fernández-Cancio, Laura Audí et al. Broad phenotypes in heterozyg- ous NR5A146,XY patients with a disorder of sex development: an oligogenic origin? Eur J Hum Genet. 11 June 2018.

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    2018-10-01 canlab
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authenticateStatus=null, createdAvatar=, createdBy=eff51996281, createdName=1e1b8538m79(暂无匿称), createdTime=Fri Jun 22 23:07:25 CST 2018, time=2018-06-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326189, encodeId=469832618937, content=不错的文章值得拥有哦, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eff51996281, createdName=1e1b8538m79(暂无匿称), createdTime=Fri Jun 22 23:05:35 CST 2018, time=2018-06-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326179, encodeId=3ed13261e9ac, content=谢谢分享学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/Q3auHgzwzM4o2XVpJ6449yqDsjibydI5HnJ8MibGxNn4HZiaZib0bdfibbwoz3KQrIyN9AGxq36ZlZRNicYlPfOOWMtwgsajY6mGNFiaPclFdowjD0/0, createdBy=97bd1338592, createdName=清风拂面, createdTime=Fri Jun 22 22:15:38 CST 2018, time=2018-06-22, status=1, ipAttribution=)]
    2018-09-28 cy0324
  5. 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createdAvatar=https://wx.qlogo.cn/mmopen/Q3auHgzwzM4o2XVpJ6449yqDsjibydI5HnJ8MibGxNn4HZiaZib0bdfibbwoz3KQrIyN9AGxq36ZlZRNicYlPfOOWMtwgsajY6mGNFiaPclFdowjD0/0, createdBy=97bd1338592, createdName=清风拂面, createdTime=Fri Jun 22 22:15:38 CST 2018, time=2018-06-22, status=1, ipAttribution=)]
    2018-06-24 neurowu
  6. 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    2018-06-24 tastas
  7. 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createdAvatar=https://wx.qlogo.cn/mmopen/Q3auHgzwzM4o2XVpJ6449yqDsjibydI5HnJ8MibGxNn4HZiaZib0bdfibbwoz3KQrIyN9AGxq36ZlZRNicYlPfOOWMtwgsajY6mGNFiaPclFdowjD0/0, createdBy=97bd1338592, createdName=清风拂面, createdTime=Fri Jun 22 22:15:38 CST 2018, time=2018-06-22, status=1, ipAttribution=)]
    2018-06-22 医者仁心5538

    学习了

    0

  8. 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createdBy=7ea033781210, createdName=canlab, createdTime=Mon Oct 01 00:49:00 CST 2018, time=2018-10-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1686222, encodeId=7ec31686222da, content=<a href='/topic/show?id=66f3e93862' target=_blank style='color:#2F92EE;'>#Genet#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7938, encryptionId=66f3e93862, topicName=Genet)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Mon May 20 01:49:00 CST 2019, time=2019-05-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2049047, encodeId=f13d204904e93, content=<a href='/topic/show?id=4363e929ad' target=_blank style='color:#2F92EE;'>#Gene#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7929, encryptionId=4363e929ad, topicName=Gene)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=63a4277, createdName=cy0324, createdTime=Fri Sep 28 12:49:00 CST 2018, time=2018-09-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1347308, encodeId=c5dc134e3088d, content=<a href='/topic/show?id=88713e938c1' target=_blank style='color:#2F92EE;'>#发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37938, encryptionId=88713e938c1, topicName=发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f4c124, createdName=neurowu, createdTime=Sun Jun 24 11:49:00 CST 2018, time=2018-06-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1535177, encodeId=571215351e751, content=<a href='/topic/show?id=099f9020145' target=_blank style='color:#2F92EE;'>#表型#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, 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=Sun Jun 24 11:49:00 CST 2018, time=2018-06-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326221, encodeId=29cb326221d7, content=学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=82311653708, createdName=医者仁心5538, createdTime=Fri Jun 22 23:35:46 CST 2018, time=2018-06-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326191, encodeId=838832619143, content=不错的文章值得拥有哦, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eff51996281, createdName=1e1b8538m79(暂无匿称), createdTime=Fri Jun 22 23:07:25 CST 2018, time=2018-06-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326189, encodeId=469832618937, content=不错的文章值得拥有哦, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eff51996281, createdName=1e1b8538m79(暂无匿称), createdTime=Fri Jun 22 23:05:35 CST 2018, time=2018-06-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326179, encodeId=3ed13261e9ac, content=谢谢分享学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/Q3auHgzwzM4o2XVpJ6449yqDsjibydI5HnJ8MibGxNn4HZiaZib0bdfibbwoz3KQrIyN9AGxq36ZlZRNicYlPfOOWMtwgsajY6mGNFiaPclFdowjD0/0, createdBy=97bd1338592, createdName=清风拂面, createdTime=Fri Jun 22 22:15:38 CST 2018, time=2018-06-22, status=1, ipAttribution=)]
    2018-06-22 1e1b8538m79(暂无匿称)

    不错的文章值得拥有哦

    0

  9. [GetPortalCommentsPageByObjectIdResponse(id=2060817, encodeId=5648206081ec8, content=<a href='/topic/show?id=c73f3e96355' target=_blank style='color:#2F92EE;'>#发育障碍#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37963, encryptionId=c73f3e96355, topicName=发育障碍)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=295c372, createdName=chaojitidian, createdTime=Thu Jun 06 03:49:00 CST 2019, time=2019-06-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1734019, encodeId=96721e340194d, content=<a href='/topic/show?id=d4f412668a4' target=_blank style='color:#2F92EE;'>#NET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12668, encryptionId=d4f412668a4, topicName=NET)], attachment=null, authenticateStatus=null, createdAvatar=null, 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encryptionId=4363e929ad, topicName=Gene)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=63a4277, createdName=cy0324, createdTime=Fri Sep 28 12:49:00 CST 2018, time=2018-09-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1347308, encodeId=c5dc134e3088d, content=<a href='/topic/show?id=88713e938c1' target=_blank style='color:#2F92EE;'>#发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37938, encryptionId=88713e938c1, topicName=发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f4c124, createdName=neurowu, createdTime=Sun Jun 24 11:49:00 CST 2018, time=2018-06-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1535177, encodeId=571215351e751, content=<a href='/topic/show?id=099f9020145' target=_blank style='color:#2F92EE;'>#表型#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, 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=Sun Jun 24 11:49:00 CST 2018, time=2018-06-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326221, encodeId=29cb326221d7, content=学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=82311653708, createdName=医者仁心5538, createdTime=Fri Jun 22 23:35:46 CST 2018, time=2018-06-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326191, encodeId=838832619143, content=不错的文章值得拥有哦, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eff51996281, createdName=1e1b8538m79(暂无匿称), createdTime=Fri Jun 22 23:07:25 CST 2018, time=2018-06-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326189, encodeId=469832618937, content=不错的文章值得拥有哦, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eff51996281, createdName=1e1b8538m79(暂无匿称), createdTime=Fri Jun 22 23:05:35 CST 2018, time=2018-06-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326179, encodeId=3ed13261e9ac, content=谢谢分享学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/Q3auHgzwzM4o2XVpJ6449yqDsjibydI5HnJ8MibGxNn4HZiaZib0bdfibbwoz3KQrIyN9AGxq36ZlZRNicYlPfOOWMtwgsajY6mGNFiaPclFdowjD0/0, createdBy=97bd1338592, createdName=清风拂面, createdTime=Fri Jun 22 22:15:38 CST 2018, time=2018-06-22, status=1, ipAttribution=)]
    2018-06-22 1e1b8538m79(暂无匿称)

    不错的文章值得拥有哦

    0

  10. [GetPortalCommentsPageByObjectIdResponse(id=2060817, encodeId=5648206081ec8, content=<a href='/topic/show?id=c73f3e96355' target=_blank style='color:#2F92EE;'>#发育障碍#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37963, encryptionId=c73f3e96355, topicName=发育障碍)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=295c372, createdName=chaojitidian, createdTime=Thu Jun 06 03:49:00 CST 2019, time=2019-06-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1734019, encodeId=96721e340194d, content=<a href='/topic/show?id=d4f412668a4' target=_blank style='color:#2F92EE;'>#NET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12668, encryptionId=d4f412668a4, topicName=NET)], attachment=null, authenticateStatus=null, createdAvatar=null, 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encryptionId=4363e929ad, topicName=Gene)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=63a4277, createdName=cy0324, createdTime=Fri Sep 28 12:49:00 CST 2018, time=2018-09-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1347308, encodeId=c5dc134e3088d, content=<a href='/topic/show?id=88713e938c1' target=_blank style='color:#2F92EE;'>#发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37938, encryptionId=88713e938c1, topicName=发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f4c124, createdName=neurowu, createdTime=Sun Jun 24 11:49:00 CST 2018, time=2018-06-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1535177, encodeId=571215351e751, content=<a href='/topic/show?id=099f9020145' target=_blank style='color:#2F92EE;'>#表型#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, 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=Sun Jun 24 11:49:00 CST 2018, time=2018-06-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326221, encodeId=29cb326221d7, content=学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=82311653708, createdName=医者仁心5538, createdTime=Fri Jun 22 23:35:46 CST 2018, time=2018-06-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326191, encodeId=838832619143, content=不错的文章值得拥有哦, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eff51996281, createdName=1e1b8538m79(暂无匿称), createdTime=Fri Jun 22 23:07:25 CST 2018, time=2018-06-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326189, encodeId=469832618937, content=不错的文章值得拥有哦, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eff51996281, createdName=1e1b8538m79(暂无匿称), createdTime=Fri Jun 22 23:05:35 CST 2018, time=2018-06-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=326179, encodeId=3ed13261e9ac, content=谢谢分享学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/Q3auHgzwzM4o2XVpJ6449yqDsjibydI5HnJ8MibGxNn4HZiaZib0bdfibbwoz3KQrIyN9AGxq36ZlZRNicYlPfOOWMtwgsajY6mGNFiaPclFdowjD0/0, createdBy=97bd1338592, createdName=清风拂面, createdTime=Fri Jun 22 22:15:38 CST 2018, time=2018-06-22, status=1, ipAttribution=)]
    2018-06-22 清风拂面

    谢谢分享学习

    0