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

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Bibliographic Details
Published in:Hereditas 2018, Vol.155 (1), p.24-24, Article 24
Main Authors: Cai, Ren, Liu, Fatao, Hua, Chen, Yu, Zhang, Ramien, Michele, Malic, Claudia, Yu, Wenxin, Zhang, Xiaolin, Liu, Yun, Jin, Yunbo, Hu, Xun, Lin, Xiaoxi
Format: Article
Language:English
Subjects:
Angiography
Apoptosis
Biliary tract
Brief Report
Capillary malformation-arteriovenous malformation
Central nervous system
Children
China
Dermis
East Asia
Mental disorders
Mutation
Proteins
RASA-1 mutation
RasGAP
Reconstructive surgery
Soft tissues
Surgery
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Summary: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 function (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.
ISSN:1601-5223
0018-0661
1601-5223
DOI:10.1186/s41065-018-0062-8