GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of G α/11Mosaicism 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 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 dermal melanocytosis (EDM) (Thomas et al., 2016).

Source: Journal of Investigative Dermatology - December 11, 2019 Category: Dermatology Authors: Satyamaanasa Polubothu, Lara Al-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, Anton Tags: Letter to the Editor Source Type: research