Arteriovenous malformation associated with a HRAS mutation
Arteriovenous malformation associated with a HRAS mutation
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DOI：
10.1007/s00439-019-02072-y
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发表时间：
2019-10-21
期刊：
影响因子：
5.3
通讯作者：
Greene, Arin K.
中科院分区：
文献类型：
--
作者：
Konczyk, Dennis J.;Goss, Jeremy A.;Greene, Arin K.
大多数颅外动静脉畸形（AVM）由MAP2K1的体细胞突变引起。我们报告了一个与皮下脂肪过度生长相关的面部动静脉畸形患者的体细胞HRAS突变。我们对来自受影响组织的DNA进行了全外显子组测序，发现了HRAS突变（p.Thr58_Ala59delinsValLeuAspVal）。突变等位基因频率为5%，在整个组织和31%，在分离的内皮细胞（EC），突变不存在于血液DNA或非EC。HRAS的体细胞突变可导致AVM。
The majority of extracranial arteriovenous malformations (AVMs) are caused by somatic mutations in MAP2K1. We report a somatic HRAS mutation in a patient who has a facial AVM associated with subcutaneous adipose overgrowth. We performed whole exome sequencing on DNA from the affected tissue and found a HRAS mutation (p.Thr58_Ala59delinsValLeuAspVal). Mutant allelic frequency was 5% in whole tissue and 31% in isolated endothelial cells (ECs); the mutation was not present in blood DNA or non-ECs. Somatic mutations in HRAS can cause AVM.