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

Hereditas
Ren CaiXiaoxi Lin

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.

References

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Citations

Jun 28, 2019·Current Opinion in Pediatrics·Miguel Zúñiga-CastilloJoyce M C Teng
May 24, 2020·Journal of Clinical Medicine·Peter B SpornsGrégoire Boulouis
Dec 16, 2020·JAAD Case Reports·Rujira RujiwetpongstornRatchathorn Panchaprateep
Dec 3, 2020·Frontiers in Cardiovascular Medicine·Khoa Bui, Young-Kwon Hong
Feb 27, 2021·Frontiers in Surgery·Ethan J KilmisterSwee T Tan
Apr 9, 2021·Frontiers in Medicine·Dragan PrimoracJohannes Brachmann
Jun 25, 2021·Circulation Research·Justin RustenhovenJonathan Kipnis

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Methods Mentioned

BETA
biopsy
PCR
GTPase

Software Mentioned

Genome Analysis Toolkit ( GATK
Integrative Genomic Viewer ( IGV )
PICARD
Mutation Surveyor

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