Mol Genet Genomic Med:TMC1和CDH23基因的新型纯合变异引起常染色体隐性非综合征性听力损失

2020-12-16 AlexYang MedSci原创

遗传性听力损失(HL)是一种异质性的、最常见的感觉神经障碍。目前至少有76个基因已被报道与常染色体隐性非综合征HL(ARNSHL)有关。最近,有研究人员对两个不同血缘关系的伊朗家庭中的两名双侧感觉神经

遗传性听力损失(HL)是一种异质性的、最常见的感觉神经障碍。目前至少有76个基因已被报道与常染色体隐性非综合征HL(ARNSHL)有关。最近,有研究人员对两个不同血缘关系的伊朗家庭中的两名双侧感觉神经HL患者进行了研究,以揭示其潜在的遗传因素

研究人员对患者进行了身体和感觉神经检查,使用影像学检查中耳和内耳解剖结构的异常。为了阐明GJB2阴性样本可能的遗传病因,研究人员对渊源者进行了全外显子组测序,并随后应用Sanger测序进行变异确认。临床检查结果显示患者存在ARNSHL。全外显子组测序发现了两个与HL共分离的新型变异,且这些变异在100个人种匹配的对照组中是不存在的。在第一个家族中,TMC1基因中的一个新的纯合变异NM_138691.2:c.530T>C;p.(lle177Thr)与语前ARNSHL共分离。在第二个家族中,NM_022124.6:c.2334G>A;p.(Trp778*)为引起语前ARNSHL的无义变异。

TMC1和CDH23基因变异峰图

最后,研究人员指出,他们结果肯定了TMC1和CDH23筛查对检测伊朗患者的HL是重要的鉴定TMC1和CDH23致病变异有助于对HL进行详细的表征

原始出处:

Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi et al. Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss. Mol Genet Genomic Med. Nov 2020

 

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    2021-03-07 cy0324
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topicName=Genet)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=d3e128296421, createdName=江川靖瑶, createdTime=Thu Apr 29 08:58:13 CST 2021, time=2021-04-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1306599, encodeId=d18a13065996b, content=<a href='/topic/show?id=aeb639230b7' target=_blank style='color:#2F92EE;'>#听力#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, 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=Fri Dec 18 12:58:13 CST 2020, time=2020-12-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1331745, encodeId=c57e1331e45b7, content=<a href='/topic/show?id=d85a6181e4d' target=_blank style='color:#2F92EE;'>#染色体#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=55, 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GetPortalCommentsPageByObjectIdResponse(id=1431983, encodeId=81c9143198370, 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=41, 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=Fri Dec 18 12:58:13 CST 2020, time=2020-12-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1610828, encodeId=ab5f161082842, content=<a href='/topic/show?id=eb6b1145939' target=_blank style='color:#2F92EE;'>#Med#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=11459, 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  5. 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topicName=Genet)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=d3e128296421, createdName=江川靖瑶, createdTime=Thu Apr 29 08:58:13 CST 2021, time=2021-04-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1306599, encodeId=d18a13065996b, content=<a href='/topic/show?id=aeb639230b7' target=_blank style='color:#2F92EE;'>#听力#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, 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=Fri Dec 18 12:58:13 CST 2020, time=2020-12-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1331745, encodeId=c57e1331e45b7, content=<a href='/topic/show?id=d85a6181e4d' target=_blank style='color:#2F92EE;'>#染色体#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=55, 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GetPortalCommentsPageByObjectIdResponse(id=1431983, encodeId=81c9143198370, 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=41, 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=Fri Dec 18 12:58:13 CST 2020, time=2020-12-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1610828, encodeId=ab5f161082842, content=<a href='/topic/show?id=eb6b1145939' target=_blank style='color:#2F92EE;'>#Med#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=11459, encryptionId=eb6b1145939, topicName=Med)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=552a19396740, createdName=ms3994565386320060, createdTime=Fri Dec 18 12:58:13 CST 2020, time=2020-12-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=908727, encodeId=8bc0908e275e, content=学习了,谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=86, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7c592194322, createdName=1209e435m98(暂无昵称), createdTime=Wed Dec 16 22:46:14 CST 2020, time=2020-12-16, status=1, ipAttribution=)]
    2020-12-18 ysjykql
  6. 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  7. 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    2020-12-16 1209e435m98(暂无昵称)

    学习了,谢谢分享

    0

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Nature:中国人很安全,新冠重症风险遗传自灭绝的尼安德特人,印度和欧洲人风险高

感染新冠后,中国人发展为重症的可能性很低,实际情况也确实如此。值得注意的是,南亚的印度现在已成为新冠疫情震中,每日新增超过8万人,预计很快将超过美国成为新冠感染人数最多的国家。

Nat commun:痒!湿疹是怎么得的?Nature子刊揭示新的遗传线索!

特应性皮炎,俗称湿疹,是常见的慢性炎症性皮肤病。除了引起皮肤上典型的皮损外,它还会伴有中度至重度的反复瘙痒,使患者苦不堪言。遗憾的是,其发病机理至今尚未得到充分解释。

Dev Cell:科学家发现PRC1在遗传错误和癌症中发挥作用

PRC1在细胞分裂过程中起着“粘胶”的作用,可以精确地控制单个细胞分裂过程中两组DNA分离的速度。这一发现可以解释为什么太多或太少的PRC1会破坏该过程并导致与癌症有关的基因组错误。

Science Advances :Edwin Wang/崔庆华/李坚强等团队发现人类癌症遗传密码

根据最新的统计,每个人一生中罹患癌症的概率高于1/3,即平均每个家庭都会出现至少一个癌症患者。为了寻找癌症的成因,过去几十年科学家试图发现更多的癌症易感基因。

这5种疾病,很容易遗传给下一代,也算连累了孩子

很多疾病的发生都是受遗传因素的影响,父母的身体状况很大程度上也影响了子女的健康。

AGING CELL:三代人的队列研究告诉你,为什么健康和生存优势具有家族聚集现象?

一些复杂的疾病和病症显示出三代人的家族聚集性。在一项名为Framingham的研究中,第一代的早发性高血压与孙辈的高血压相关,即使调整了父母的早发性高血压和生活方式因素后也是如此。