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 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. Electronic supplementary material The online version of this article (10.1186/s41065-018-0062-8) contains supplementary material, which is available to authorized users.

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PID https://www.doi.org/10.1186/s41065-018-0062-8
PID pmc:PMC6048896
PID pmid:30026675
URL https://hereditasjournal.biomedcentral.com/articles/10.1186/s41065-018-0062-8
URL https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048896
URL https://link.springer.com/article/10.1186%2Fs41065-018-0062-8
URL https://dx.doi.org/10.1186/s41065-018-0062-8
URL https://pubmed.ncbi.nlm.nih.gov/30026675/
URL https://doaj.org/toc/1601-5223
URL http://dx.doi.org/10.1186/s41065-018-0062-8
URL http://link.springer.com/content/pdf/10.1186/s41065-018-0062-8.pdf
URL http://link.springer.com/article/10.1186/s41065-018-0062-8/fulltext.html
URL http://link.springer.com/article/10.1186/s41065-018-0062-8
URL https://link.springer.com/content/pdf/10.1186%2Fs41065-018-0062-8.pdf
URL http://europepmc.org/articles/PMC6048896
URL https://hereditasjournal.biomedcentral.com/track/pdf/10.1186/s41065-018-0062-8
URL https://paperity.org/p/117215495/a-novel-rasa1-mutation-causing-capillary-malformation-arteriovenous-malformation-cm-avm
URL https://academic.microsoft.com/#/detail/2883619238
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Access Right Open Access
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Author Michele Ramien, 0000-0001-9191-3611
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Collected From Europe PubMed Central; PubMed Central; ORCID; UnpayWall; Datacite; DOAJ-Articles; Crossref; Microsoft Academic Graph
Hosted By Europe PubMed Central; Hereditas
Journal Hereditas, 155,
Publication Date 2018-07-16
Publisher BioMed Central
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Language English
Resource Type Other literature type; Article; UNKNOWN
system:type publication
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Source https://science-innovation-policy.openaire.eu/search/publication?articleId=dedup_wf_001::9bab36ba0660a293031c5ba10ddad3f8
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Last Updated 26 December 2020, 17:10 (CET)
Created 26 December 2020, 17:10 (CET)