动静脉畸形
种系突变
生殖系
血管畸形
医学
突变
病理
遗传学
生物
基因
放射科
作者
Yuanbo Li,Yi Sun,Xiaojing Zeng,Yun Liu,Fatao Liu,Xiaoxi Lin,Rongrong Cai,Hui Chen
出处
期刊:Research Square - Research Square
日期:2020-08-18
标识
DOI:10.21203/rs.3.rs-60236/v1
摘要
Abstract Capillary malformation-arteriovenous malformation syndrome (CM-AVM), a rare vascular malformation, is autosomal dominant and characterized by hereditary capillary malformations (CMs) and potential fast-flow vascular malformation underlying CMs in around one-third of patients, affecting approximately 0.3-0.5% of newborns. CM-AVM was first discovered in association with germline RASA-1 mutation and termed CM-AVM type 1 in 2003. Later, germline EPHB4 mutations were detected in RASA-1-negative CM-AVMs, also known as CM-AVM type 2. Although there have been recent genetic studies confirming the molecular basis of CM-AVM, few have focused on Asian populations, leading to the lack of comprehensive molecular profiling. In this study, we report a female patient diagnosed as CM-AVM2 with a novel stop-gain mutation causing loss of function of the EPHB4 gene. As far as we know, this is the first genetic report of germline EPHB4 loss-of-functional mutation related CM-AVM 2 in Asians, extending our understanding of CM-AVM.
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