A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia

作者：Cai, Ren; Liu, Fatao; Hua, Chen; Yu, Zhang; Ramien, Michele; Malic, Claudia; Yu, Wenxin; Zhang, Xiaolin; Liu, Yun; Jin, Yunbo^*; Hu, Xun^*; Lin, Xiaoxi^*

来源：HEREDITAS, 2018, 155(1): 24.

DOI：10.1186/s41065-018-0062-8

• Capillary malformation-arteriovenous malformation
• RASA-1 mutation
• RasGAP
• China
• East Asia

Capillary malformation-arteriovenous malformation (CM-AVM) is a clinical entity newly identified in 2003 that is caused by mutation of the RASA-1 gene, which encodes the protein p120-RasGAP. To date, most of the clinical reports on CM-AVM in the literature involve samples entirely consisting of Caucasians of European and North American descent, while reports from China or East Asia are few. Here, we describe a genetic clinical report of CM-AVM. Sequencing revealed a novel stop mutation in the RASA-1 gene causing loss of LOF) of the RasGAP domain. To our knowledge, this is the first genetic clinical report of a CM-AVM patient in East Asia. This report may extend our understanding and support further studies of CM-AVM in East Asia.

• 出版日期2018-7-16
• 单位上海市闵行区中心医院; 上海交通大学; 复旦大学