DOAJ Open Access 2018

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

Ren Cai Fatao Liu Chen Hua Zhang Yu Michele Ramien +7 lainnya

Abstrak

Abstract 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.

Topik & Kata Kunci

Genetics

Penulis (12)

Ren Cai

Fatao Liu

Chen Hua

Zhang Yu

Michele Ramien

Claudia Malic

Wenxin Yu

Xiaolin Zhang

Yun Liu

Yunbo Jin

Xun Hu

Xiaoxi Lin

Format Sitasi

APA MLA BibTeX

Cai, R., Liu, F., Hua, C., Yu, Z., Ramien, M., Malic, C. et al. (2018). A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia. https://doi.org/10.1186/s41065-018-0062-8

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Informasi Jurnal

Tahun Terbit: 2018
Sumber Database: DOAJ
DOI: 10.1186/s41065-018-0062-8
Akses: Open Access ✓