Discovery of gene mutation causing Sturge-Weber syndrome, port-wine stain birthmarks offers new hope
(Kennedy Krieger Institute) In new findings published in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of the cause -- a genetic mutation that occurs before birth -- of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States.
CONCLUSION: Our results supported the potential of AATs using A1R agonist to be a novel therapy for reducing life burden from patients with refractory epilepsy in SWS, with application to epileptic generation region but not propagation region. PMID: 32208337 [PubMed - as supplied by publisher]
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder associated with epilepsy, glaucoma, cognitive impairments, and a port-wine birthmark. Although individuals with SWS are vulnerable to known risk factors for suicide, including chronic illness and physical differences (port-wine birthmark), frequency of suicidal ideation and attempts in youth and adults with SWS is unknown.
;sz C PMID: 32107105 [PubMed - as supplied by publisher]
Patients with Sturge-Weber syndrome (SWS) are susceptible to ocular complications, and among them, glaucoma is one of the most frequent forms. In current study, we utilized multiplex human cytokine antibody array to simultaneously measure the concentration of 40 cytokines in aqueous humor (AH) of patients with SWS-induced glaucoma (SG), or from patients with senile cataract as controls. Compared with the control group, levels of interleukin (IL)-12p40, macrophage inflammatory protein (MIP)-1d, tumor necrosis factor-alpha (TNF-a), IL-5, IL-7, interleukin-6 receptor (IL-6R), and B lymphocyte chemoattractant (BLC) in AH were ...
AbstractCerebrofacial venous metameric syndrome (CVMS) is a complex craniofacial vascular malformation disorder in which patients have a constellation of venous vascular malformations affecting soft tissues, bone, dura, and neural structures including the eye and brain. It is hypothesized that a somatic mutation responsible for the venous abnormalities occurred prior to migration of the neural crest cells, and because of this, facial, osseous, and cerebral involvement typically follows a segmental or “metameric” distribution. The most commonly recognized form of CVMS is Sturge-Weber syndrome. However, a wide sp...
Authors: Saraf AS, Babhulkar SS, Joge VP PMID: 31896875 [PubMed]
Sturge-Weber angiomatosis is a rare nonhereditary developmental condition, characterized by hamartomatous vascular proliferation involving the tissues of the brain and face. Its diagnosis can be established by the identification of the following criteria: port-wine stains, leptomeningeal angiomas, skull imaging with presence of gyriform calcifications in "tram lines," and intraoral involvement resulting in hypervascular changes. The purpose of this study is to perform a case report of Sturge-Weber angiomatosis, attended at a stomatology service.
GNA11 and GNAQ are highly homologous genes encoding different G α subunits of the Gαq subfamily of heterotrimeric G-proteins. GNAQ mutation mosaicism has previously been found to cause Sturge-Weber syndrome (SWS) and isolated capillary malformations(Shirley et al., 2013). We recently described post-zygotic activating mutations in GNA11 or GNAQ as causes of Pha komatosis pigmentovascularis (PPV)(Thomas et al., 2016), a group of conditions defined by the presence of both pigmentary and vascular birthmarks(Happle, 2005, Ota, 1947), and GNAQ mosaicism as a cause of Extensive or atypical dermal melanocytosis (EDM)(Thomas et al., 2016).
GNA11 and GNAQ are highly homologous genes encoding different G α subunits of the Gαq subfamily of heterotrimeric G-proteins. GNAQ-mutation mosaicism has previously been found to cause Sturge-Weber syndrome (SWS) and isolated capillary malformations (Shirley et al., 2013). We recently described postzygotic activating mutations in GNA11 or GNAQ as causes of ph akomatosis pigmentovascularis (PPV) (Thomas et al., 2016), a group of conditions defined by the co-occurrence of pigmentary and vascular birthmarks (Happle, 2005; Ota et al., 1947), and GNAQ mosaicism as a cause of extensive or atypical derm...
To examine the symptomatology and treatment of Sturge-Weber syndrome (SWS) from a large patient registry to identify common symptoms, clinical outcomes, and areas of unmet clinical need.