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

@article{Overcash2015MaternalAF,
  title={Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.},
  author={Rachael T. Overcash and Christopher K Gibu and Marilyn C Jones and Gladys A Ramos and Tara S Andreasen},
  journal={American journal of medical genetics. Part A},
  year={2015},
  volume={167A 10},
  pages={2440-3}
}
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… CONTINUE READING