Identification of a mosaic activating mutation in GNA11 in atypical Sturge-Weber Syndrome

Sturge-Weber syndrome (Online Mendelian Inheritance in Man #185300) is a capillary malformation condition (Bichsel and Bischoff, 2019, Comi, 2015). Affected regions include the skin (typically with facial cutaneous vascular malformations called port-wine birthmarks), brain (often resulting in seizures, intellectual disability, and recurrent stroke-like episodes), and eye (often causing glaucoma). We (Shirley et al., 2013) and others (Frigerio et al., 2015, Nakashima et al., 2014) reported that 90% of individuals with SWS or nonsyndromic PWB have a mosaic, activating mutation in GNAQ, encoding G protein subunit alpha q (G αq).

Source: Journal of Investigative Dermatology - August 5, 2020 Category: Dermatology Authors: Jeremy Thorpe, Laurence P. Frelin, Meghan McCann, Carlos A. Pardo, Bernard A. Cohen, Anne M. Comi, Jonathan Pevsner Tags: Letters to the Editor Source Type: research