Baidu
map

Int J Pediatr Otorhinolaryngol:非综合征听力损失家庭中MYO15A基因新的纯和变异鉴定

2019-07-30 AlexYang MedSci原创

全世界中有数百万的人口遭受听力损失的折磨。先天性耳聋或者语前聋患者中,不少于50%的患者与遗传因子有关,并且具有高度的遗传异质性。到目前为止,尽管数百个基因在非综合征听力损失患者中已经发现,但是仍旧有许多基因或者位点需要去鉴定。最近,有研究人员利用靶标测序和Sanger测序的方法对患有常染色体阴性非综合征听力损失的哈萨克坦血统家庭进行了鉴定。之后,研究人员利用功能和结构研究来预测该新的变异造成的病

全世界中有数百万的人口遭受听力损失的折磨。先天性耳聋或者语前聋患者中,不少于50%的患者与遗传因子有关,并且具有高度的遗传异质性。到目前为止,尽管数百个基因在非综合征听力损失患者中已经发现,但是仍旧有许多基因或者位点需要去鉴定。

最近,有研究人员利用靶标测序和Sanger测序的方法对患有常染色体阴性非综合征听力损失的哈萨克坦血统家庭进行了鉴定。之后,研究人员利用功能和结构研究来预测该新的变异造成的病理影响。研究人员在引起耳聋的MYO15A基因中鉴定了一个新的纯和变异。该变异p.R3191C与疾病表型共分离并且在任何数据库中均没有该变异信息。自动工具预测表明了该新的变异对MYO15A蛋白的结构和功能具有巨大的影响。

最后,研究人员指出,他们的研究首次报道了MYO15A的一个新的变异。他们的发现扩展了MYO15A的变异谱,使得耳聋患者的未来遗传诊断更为精准。

原始出处:

Zhou H, Kuermanhan A, Zhang Z et al. Identification of a novel homozygous mutation in the MYO15A gene in a Kazakh family with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol. 21 Jul 2019

本文系梅斯医学(MedSci)原创编译整理,转载需授权!

版权声明:
本网站所有内容来源注明为“梅斯医学”或“MedSci原创”的文字、图片和音视频资料,版权均属于梅斯医学所有。非经授权,任何媒体、网站或个人不得转载,授权转载时须注明来源为“梅斯医学”。其它来源的文章系转载文章,或“梅斯号”自媒体发布的文章,仅系出于传递更多信息之目的,本站仅负责审核内容合规,其内容不代表本站立场,本站不负责内容的准确性和版权。如果存在侵权、或不希望被转载的媒体或个人可与我们联系,我们将立即进行删除处理。
在此留言
评论区 (5)
#插入话题
  1. [GetPortalCommentsPageByObjectIdResponse(id=1639179, encodeId=e48416391e9a7, content=<a href='/topic/show?id=afda591646' target=_blank style='color:#2F92EE;'>#DIA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=69, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5916, encryptionId=afda591646, topicName=DIA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=987022654425, createdName=ms9608593228839890, createdTime=Sun Sep 29 19:56:00 CST 2019, time=2019-09-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1728076, encodeId=0eb41e280764e, content=<a href='/topic/show?id=986913980dd' target=_blank style='color:#2F92EE;'>#PE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=62, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=13980, encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Sat Aug 10 13:56:00 CST 2019, time=2019-08-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1306407, encodeId=5f3e130640e47, content=<a href='/topic/show?id=aeb639230b7' target=_blank style='color:#2F92EE;'>#听力#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=39230, encryptionId=aeb639230b7, topicName=听力)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=96d4340, createdName=ysjykql, createdTime=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342587, encodeId=d61f134258eb4, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, 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=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1431592, encodeId=be4f14315924b, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=)]
  2. [GetPortalCommentsPageByObjectIdResponse(id=1639179, encodeId=e48416391e9a7, content=<a href='/topic/show?id=afda591646' target=_blank style='color:#2F92EE;'>#DIA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=69, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5916, encryptionId=afda591646, topicName=DIA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=987022654425, createdName=ms9608593228839890, createdTime=Sun Sep 29 19:56:00 CST 2019, time=2019-09-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1728076, encodeId=0eb41e280764e, content=<a href='/topic/show?id=986913980dd' target=_blank style='color:#2F92EE;'>#PE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=62, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=13980, encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Sat Aug 10 13:56:00 CST 2019, time=2019-08-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1306407, encodeId=5f3e130640e47, content=<a href='/topic/show?id=aeb639230b7' target=_blank style='color:#2F92EE;'>#听力#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=39230, encryptionId=aeb639230b7, topicName=听力)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=96d4340, createdName=ysjykql, createdTime=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342587, encodeId=d61f134258eb4, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, 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=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1431592, encodeId=be4f14315924b, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=)]
    2019-08-10 feather89
  3. [GetPortalCommentsPageByObjectIdResponse(id=1639179, encodeId=e48416391e9a7, content=<a href='/topic/show?id=afda591646' target=_blank style='color:#2F92EE;'>#DIA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=69, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5916, encryptionId=afda591646, topicName=DIA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=987022654425, createdName=ms9608593228839890, createdTime=Sun Sep 29 19:56:00 CST 2019, time=2019-09-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1728076, encodeId=0eb41e280764e, content=<a href='/topic/show?id=986913980dd' target=_blank style='color:#2F92EE;'>#PE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=62, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=13980, encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Sat Aug 10 13:56:00 CST 2019, time=2019-08-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1306407, encodeId=5f3e130640e47, content=<a href='/topic/show?id=aeb639230b7' target=_blank style='color:#2F92EE;'>#听力#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=39230, encryptionId=aeb639230b7, topicName=听力)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=96d4340, createdName=ysjykql, createdTime=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342587, encodeId=d61f134258eb4, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, 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=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1431592, encodeId=be4f14315924b, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=)]
    2019-08-01 ysjykql
  4. [GetPortalCommentsPageByObjectIdResponse(id=1639179, encodeId=e48416391e9a7, content=<a href='/topic/show?id=afda591646' target=_blank style='color:#2F92EE;'>#DIA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=69, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5916, encryptionId=afda591646, topicName=DIA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=987022654425, createdName=ms9608593228839890, createdTime=Sun Sep 29 19:56:00 CST 2019, time=2019-09-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1728076, encodeId=0eb41e280764e, content=<a href='/topic/show?id=986913980dd' target=_blank style='color:#2F92EE;'>#PE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=62, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=13980, encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Sat Aug 10 13:56:00 CST 2019, time=2019-08-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1306407, encodeId=5f3e130640e47, content=<a href='/topic/show?id=aeb639230b7' target=_blank style='color:#2F92EE;'>#听力#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=39230, encryptionId=aeb639230b7, topicName=听力)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=96d4340, createdName=ysjykql, createdTime=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342587, encodeId=d61f134258eb4, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, 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=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1431592, encodeId=be4f14315924b, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=)]
  5. [GetPortalCommentsPageByObjectIdResponse(id=1639179, encodeId=e48416391e9a7, content=<a href='/topic/show?id=afda591646' target=_blank style='color:#2F92EE;'>#DIA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=69, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5916, encryptionId=afda591646, topicName=DIA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=987022654425, createdName=ms9608593228839890, createdTime=Sun Sep 29 19:56:00 CST 2019, time=2019-09-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1728076, encodeId=0eb41e280764e, content=<a href='/topic/show?id=986913980dd' target=_blank style='color:#2F92EE;'>#PE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=62, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=13980, encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Sat Aug 10 13:56:00 CST 2019, time=2019-08-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1306407, encodeId=5f3e130640e47, content=<a href='/topic/show?id=aeb639230b7' target=_blank style='color:#2F92EE;'>#听力#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=39230, encryptionId=aeb639230b7, topicName=听力)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=96d4340, createdName=ysjykql, createdTime=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342587, encodeId=d61f134258eb4, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, 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=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1431592, encodeId=be4f14315924b, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Aug 01 03:56:00 CST 2019, time=2019-08-01, status=1, ipAttribution=)]

相关资讯

PLoS One:普通新生儿听力筛选中永久性儿童听力损失患病率研究

永久性听力损失(PCHL)能够影响说话、语言和更多的功能。副作用事件可以通过普通新生儿听力筛选(UNHS)和早期干预来减轻。最近,有研究人员进行了一个系统性的回顾和元分析来评估UNHS检测的PCHL(双耳听力损失≥26dB HL)的患病率和新生儿重症监护室(NICU)中的变化情况。次级目的是报道UNHS计划的表现情况。研究人员鉴定了41个符合要求的报道,包括了32个群体(包括1799863筛选过的

Otol Neurotol:高频听力损失患者助听器的耳鸣抑制作用分析

降频助听器(HAs)已经用于高频听力损失(HFHL),但是它们对耳鸣减轻的影响还没有很好的研究。最近,有研究人员进行随机双盲的试验来调查和比较传统类型的HAs和降频HAs在HFHL患者中对耳鸣抑制的影响情况。研究包括了114名患者,并随机分配到3个小组:采用宽动态范围压缩的传统HA小组,频率平移的HA小组和线性频率转换的HA小组。参与者穿戴HAs 3个月,之后中断使用。研究发现,与3个小组的起始值

盘点:听力损失与治疗进展盘点

【1】Am J Audiol:听力损失自我管理和助听器益处和满意度关系研究 https://www.ncbi.nlm.nih.gov/pubmed/31184964听力损失的自我管理涉及到了人们使用的控制听力损失对日常生活影响的知识和技巧。最近,有研究人员调查了自我报道的听力损失自我管理和助听器益处以及满意度之间的相关性。研究包括了37名具有听力损失的成年人,他们均为双边听力助听器的使用者。研究发

Otol Neurotol:聚乳酸生物聚合物配方对持续的鼓室内地塞米松给药是安全的

突发性感觉神经性耳聋目前的临床治疗依赖于类固醇的给药,全身给药或者是鼓室内给药。鼓室内注射可以绕过血液-耳蜗屏障,从而减少对全身造成的副作用影响。注射治疗效果有限,原因是药物很快就被通过咽鼓管清除,或者是因为非最优的缓释药物载体引起。基于己基代聚乳酸(HexPLA)的一种新的缓释药物传输介质具有最好的安全性和完美的生物可降解性,已经在模型中鼓室内注射进行安全性和效果评估。研究发现,在注射1周后,H

盘点:听力损伤研究盘点

听力损失(hearing loss)又称聋度(deafness)或听力级(hearing level)。是人耳在某一频率的听阈比正常听阈高出的分贝数。由于年龄关系产生的听力损失称为老年性耳聋;由于社会环境噪声(年龄、职业性噪声和疾病等影响除外)产生的听力损失称为社会性耳聋;职业性噪声导致的听力损失称为噪声性耳聋。梅斯医学小编整理了近期听力损失的研究进展,与大家一起分享学习!【1】Int J P

Int Arch Occup Environ Health:在幼儿园工作能够增加听力相关症状的风险

最近,有研究人员评估了是否在幼儿园工作能够增加听力相关症状的风险,以及是否年龄、职业噪音和压力工作条件能够影响上述风险。研究包括了4718名幼儿园教师和4122名随机挑选的对照。他们的年龄在24-65岁。研究人员通过调查问卷的方式对听力损失、耳鸣、语言感知困难和听觉疲劳等听力相关的症状进行了调查。研究发现,与对照相比,幼儿园教师的声音诱导的听觉疲劳(RR 2.4, 95%CI 2.2-2.5)和听

Baidu
map
Baidu
map
Baidu
map