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Clinica Chimica Acta：中国近亲家族中一个新的ERCC8突变

2019-09-13 gladiator MedSci原创

近亲ERCC8突变
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近亲的中国家庭受到一种明显的新型常染色体隐性遗传病的影响，其特征是小脑性共济失调，皮肤光敏性和轻度智力障碍。

近亲的中国家庭受到一种明显的新型常染色体隐性遗传病的影响，其特征是小脑性共济失调，皮肤光敏性和轻度智力障碍。

本研究试图通过纯合性作图、单倍型分析、全外显子组测序、候选基因突变筛查，鉴定疾病相关基因和突变，对该家系进行评价。利用生物信息学方法预测突变基因产物的功能意义，并检测ERCC8突变和表型。

所有三名患者均出现小脑性共济失调，皮肤光敏性和轻度智力残疾。近亲家庭的全基因组和候选区域连锁分析揭示了在5q12.1处得分最大。通过纯合子作图确认了该纯合区域。在ERCC8中，在5q12.1处鉴定出影响进化高度保守氨基酸的Gly257Arg。将整个外显子组测序和纯合子作图的综合应用是血缘家族中基因定位和突变鉴定的有效方法。

本研究发现了一个新的ERCC8突变和新的独特的疾病表型。这些结果也证实了ERCC8基因突变与临床表现之间的基因型-表型关系。

原始出处：

Danyan Zhang，Limeng Dai，Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia

本文系梅斯医学（MedSci）原创编译整理，转载需授权！


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    2020-06-09 isabellayj

    #RCC#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=2036681, encodeId=9fc02036681e1, content=<a href='/topic/show?id=3bde1518863' target=_blank style='color:#2F92EE;'>#RCC#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=15188, encryptionId=3bde1518863, topicName=RCC)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=d784426, createdName=isabellayj, createdTime=Tue Jun 09 15:50:00 CST 2020, time=2020-06-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849700, encodeId=6cf61849e00a4, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=84, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Thu Nov 28 20:50:00 CST 2019, time=2019-11-28, status=1, ipAttribution=)]
    2019-11-28 windight

    #CTA#

    0