GNA11 mutation as a cause of Sturge Weber Syndrome - expansion of the phenotypic spectrum of G-protein related mosaicism and the associated clinical diagnoses

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).

Source: Journal of Investigative Dermatology - December 11, 2019 Category: Dermatology Authors: Satyamaanasa Polubothu, Lara A-Olabi, Maria Carmen del Boente, Alisha Chacko, Georgios Eleftheriou, Mary Glover, David Jim énez-Gallo, Elizabeth A. Jones, Debra Lomas, Regina Fölster-Holst, Samira Syed, Monika Tasani, Anna Thomas, Martin Tisdall, Antoni Tags: Letters to the Editor Source Type: research