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Am J Med Genet A. 2015 Oct;167A(10):2440-3. doi: 10.1002/ajmg.a.37203. Epub 2015 Jun 11.

Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.

Author information

1
Division of Maternal-Fetal Medicine, Department of Reproductive Medicine, University of California, San Diego, California.
2
Division of Neonatology, Department of Pediatrics, University of California, San Diego, California.
3
Division of Genetics, Department of Pediatrics, University of California, San Diego, California.

Abstract

RASA1 mutations have been shown to cause capillary malformation-arteriovenous malformation (CM-AVM). We describe a patient with CM-AVM and a fetus who presented with non-immune hydrops fetalis during the pregnancy. Sequencing revealed a novel RASA1 mutation in the RASGAP domain that results in a loss of function of p120-RasGap. This report expands our current genetic and clinical understanding of CM-AVM in pregnancy.

KEYWORDS:

CM-AVM; RASA1; RasGAP; arteriovenous malformation; capillary malformation; etiology; pregnancy

PMID:
26096958
DOI:
10.1002/ajmg.a.37203
[Indexed for MEDLINE]

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