Related Experiment Video

Updated: Feb 27, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K

RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy

Kala F Schilter1, Jack E Steiner1, Wendy Demos2

  • 1Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin.

American Journal of Medical Genetics. Part A
|July 8, 2017
PubMed

Insights

Segmental infantile hemangiomas (IH) can link to congenital anomalies. This study links RNF213 gene variants to moyamoya vasculopathy (MMV) in patients with hemangioma syndromes and cerebral arterial anomalies.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Segmental infantile hemangiomas (IH) are associated with regional congenital anomalies.
  • PHACE syndrome involves cervicofacial IH, aortic arch, head/neck artery anomalies, and posterior fossa/eye structural issues.
  • A subset of PHACE patients develop moyamoya vasculopathy (MMV), characterized by internal carotid artery stenosis and collateral vessel formation.

Observation:

  • A patient presented with MMV and segmental IH on the back and lower body.
  • The patient met PHACE diagnostic criteria due to posterior segment eye anomaly and cerebral arterial anomalies.
  • Whole exome sequencing identified two inherited heterozygous variants in the RNF213 gene.

Findings:

  • RNF213 gene variants are linked to an increased susceptibility to developing MMV.
  • The identified RNF213 variants may contribute to MMV development in patients with hemangioma syndromes.
  • This case highlights a potential genetic link between RNF213 variants and cerebral arterial anomalies in hemangioma syndromes.

Implications:

  • Suggests RNF213 variants play a role in MMV pathogenesis within specific hemangioma-associated syndromes.
  • Highlights the importance of genetic screening (RNF213) in patients with PHACE and MMV.
  • Advances understanding of the genetic underpinnings of complex vascular and structural anomalies in infantile hemangioma patients.

Keywords:
PHACERNF213moyamoya vasculopathysegmental hemangioma

More Related Videos

Shunt Surgery, Right Heart Catheterization, and Vascular Morphometry in a Rat Model for Flow-induced Pulmonary Arterial Hypertension09:23

Shunt Surgery, Right Heart Catheterization, and Vascular Morphometry in a Rat Model for Flow-induced Pulmonary Arterial Hypertension

Published on: February 11, 2017

17.6K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K

Related Concept Videos

Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
641
Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
710
Mitral Stenosis I: Introduction01:22

Mitral Stenosis I: Introduction

Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
945
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
25.4K
Rheumatic Heart Disease III: Medical Management01:21

Rheumatic Heart Disease III: Medical Management

Rheumatic heart disease (RHD) management can be divided into two main strategies: prevention and long-term management.Primary PreventionPrimary prevention focuses on timely diagnosis and management of group A streptococcal pharyngitis to prevent acute rheumatic fever. The most widely used antibiotic for treating this condition is intramuscular benzathine penicillin G.Acute Rheumatic Fever TreatmentThe primary treatment goal for a patient diagnosed with acute rheumatic fever is to suppress the...
420