title: Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.
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.
authors.affiliation: Division of Maternal-Fetal Medicine, Department of Reproductive Medicine, University of California, San Diego, California.
authors.forename: Rachael T
authors.initials: RT
authors.lastname: Overcash
authors.affiliation: Division of Neonatology, Department of Pediatrics, University of California, San Diego, California.
authors.forename: Christopher K
authors.initials: CK
authors.lastname: Gibu
authors.affiliation: Division of Genetics, Department of Pediatrics, University of California, San Diego, California.
authors.forename: Marilyn C
authors.initials: MC
authors.lastname: Jones
authors.affiliation: Division of Maternal-Fetal Medicine, Department of Reproductive Medicine, University of California, San Diego, California.
authors.forename: Gladys A
authors.initials: GA
authors.lastname: Ramos
authors.affiliation: Division of Genetics, Department of Pediatrics, University of California, San Diego, California.
authors.forename: Tara S
authors.initials: TS
authors.lastname: Andreasen
mesh_terms: D000328:Adult; D001165:Arteriovenous Malformations / Q000235:genetics* / Q000473:pathology; D002196:Capillaries / Q000002:abnormalities* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005333:Fetus; D015870:Gene Expression; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D019339:Port-Wine Stain / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D017434:Protein Structure, Tertiary; D020729:p120 GTPase Activating Protein / Q000235:genetics*
chemical_list: C557248:RASA1 protein, human; D020729:p120 GTPase Activating Protein
keywords: CM-AVM; RASA1; RasGAP; arteriovenous malformation; capillary malformation; etiology; pregnancy