TY - JOUR
T1 - A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy
AU - Durrington, Hannah J.
AU - Firth, Helen V.
AU - Patient, Charlotte
AU - Belham, Mark
AU - Jayne, David
AU - Burrows, Nigel
AU - Morrell, Nicholas W.
AU - Chilvers, Edwin R.
PY - 2013/7
Y1 - 2013/7
N2 - Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized clinical entity caused by mutation of the RASA1 gene, which encodes p120-RasGAP. Here we describe, for the first time, a patient with CM-AVM presenting during the late stages of pregnancy with pulmonary "capillary level" microvascular shunt, worsening cutaneous capillary malformations, and gross fluid overload. Sequencing revealed a novel mutation of the RASA1 gene involving a frameshift mutation in the RASGAP domain of RASA1. This report extends our current genetic and clinical understanding of CM-AVM. © 2013 Wiley Periodicals, Inc.
AB - Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized clinical entity caused by mutation of the RASA1 gene, which encodes p120-RasGAP. Here we describe, for the first time, a patient with CM-AVM presenting during the late stages of pregnancy with pulmonary "capillary level" microvascular shunt, worsening cutaneous capillary malformations, and gross fluid overload. Sequencing revealed a novel mutation of the RASA1 gene involving a frameshift mutation in the RASGAP domain of RASA1. This report extends our current genetic and clinical understanding of CM-AVM. © 2013 Wiley Periodicals, Inc.
KW - Capillary malformation-arteriovenous malformation
KW - RASA1 frameshift mutation
U2 - 10.1002/ajmg.a.35935
DO - 10.1002/ajmg.a.35935
M3 - Article
C2 - 23687085
SN - 1552-4825
VL - 161
SP - 1690
EP - 1694
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 7
ER -