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.
Subject(s)
Arteriovenous Malformations/genetics , Capillaries/abnormalities , Hydrops Fetalis/genetics , Mutation , Port-Wine Stain/genetics , p120 GTPase Activating Protein/genetics , Adult , Arteriovenous Malformations/pathology , Capillaries/pathology , DNA Mutational Analysis , Female , Fetus , Gene Expression , Humans , Hydrops Fetalis/pathology , Infant, Newborn , Male , Port-Wine Stain/pathology , Pregnancy , Protein Structure, TertiaryABSTRACT
Whole-exome sequencing in a female fetus detected a USP9X variant. This X-linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with USP9X. Identifying this variant impacted management of the subsequent pregnancy.
ABSTRACT
Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1. WES is a useful approach for diagnosing rare single-gene conditions with nonspecific phenotypes and should be considered early in the diagnostic process of investigating fetal abnormalities.