RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy. Am J Med Genet A 2017 Sep;173(9):2557-2561
Date
07/08/2017Pubmed ID
28686325Pubmed Central ID
PMC5815368DOI
10.1002/ajmg.a.38258Scopus ID
2-s2.0-85022035456 (requires institutional sign-in at Scopus site) 13 CitationsAbstract
Segmental infantile hemangiomas (IH) can be associated with congenital anomalies in a regional distribution. PHACE refers to large cervicofacial segmental IH in association with congenital anomalies of the aortic arch and medium-sized arteries of the head and neck, as well as structural anomalies of the posterior fossa and eye. A subset of PHACE patients have arterial anomalies that progress to moyamoya vasculopathy (MMV). MMV is defined as stenosis of the supraclinoid segment of the internal carotid arteries and/or their major branches, with subsequent development of a compensatory collateral vessel network. We describe a patient with MMV and segmental IH on the back and lower body who meets diagnostic criteria for PHACE based on a posterior segment eye anomaly and cerebral arterial anomalies. Whole exome sequencing demonstrated two inherited heterozygous variants in RNF213. Variants in RNF213 are associated with increased susceptibility to MMV. Our findings suggest that RNF213 variants may play a role in the development of MMV in patients with hemangioma syndromes associated with congenital cerebral arterial anomalies.
Author List
Schilter KF, Steiner JE, Demos W, Maheshwari M, Prokop JW, Worthey E, Drolet BA, Siegel DHAuthors
Mohit Maheshwari MD Professor in the Radiology department at Medical College of WisconsinKala Schilter in the CTSI department at Medical College of Wisconsin - CTSI
MESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleAdenosine Triphosphatases
Aorta, Thoracic
Aortic Coarctation
Child
Female
Humans
Male
Moyamoya Disease
Ubiquitin-Protein Ligases
Vascular Diseases
