Search

Your search keyword '"RASA1 Gene"' showing total 2 results
Start Over Descriptor "RASA1 Gene" Journal american journal of medical genetics part a
2 results on '"RASA1 Gene"'

1. A novelRASA1mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy

Author

Nicholas W. Morrell, David Jayne, Mark Belham, Nigel Burrows, Charlotte Patient, Helen V. Firth, Hannah J. Durrington, and Edwin R. Chilvers

Subjects
Adult, Male, Cutaneous capillary malformations, Pathology, medicine.medical_specialty, Pregnancy Complications, Cardiovascular, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, Biology, Frameshift mutation, Arteriovenous Malformations, Pregnancy, Genetics, medicine, Humans, Frameshift Mutation, Genetics (clinical), RASA1 Gene, p120 GTPase Activating Protein, medicine.disease, Capillaries, Pedigree, Shunt (medical), Mutation (genetic algorithm), Female, Novel mutation
Abstract

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.

Published
2013
Full Text
View/download PDF

2. 5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.

Author

Ilari R, Agosta G, and Bacino C

Subjects
Blood Vessels abnormalities, Blood Vessels metabolism, Brain metabolism, Brain pathology, Brain physiopathology, Child, Disease Progression, Female, Gene Deletion, Humans, MEF2 Transcription Factors deficiency, MEF2 Transcription Factors genetics, Neurocutaneous Syndromes pathology, Neurocutaneous Syndromes physiopathology, Penetrance, Skin blood supply, Skin metabolism, Skin pathology, p120 GTPase Activating Protein deficiency, Chromosome Deletion, Chromosomes, Human, Pair 5, Neurocutaneous Syndromes diagnosis, Neurocutaneous Syndromes genetics, p120 GTPase Activating Protein genetics
Abstract

We report the case of a young girl who was presented with complex clinical symptoms caused by the deletion of contiguous genes: RASA1 and MEF2C, located on chromosome 5q14.3. Specifically, the diagnosis of her skin disorder and vascular malformations involving central nervous system is consistent with a RASopathy. The child's neurological manifestations are observed in most patients suffering from 5q14.3 by deletion or mutation of the MEF2C gene. A review of the literature allowed us to conclude that the contiguous deletion of genes RASA1 and MEF2C fulfills the criteria for the diagnosis of a Neurocutaneous syndrome as proposed by Carr et al. [2011]. We also assessed the penetrance of RASA1 and clinical manifestations of MEF2C according to the type of deletion. This child described presents the complete symptomatology of both deleted genes. We would also like to highlight the progression of the disorder., (© 2016 Wiley Periodicals, Inc.)

Published
2016
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results