766 The phenotypic spectrum of vascular anomalies associated with postzygotic mosaic variants in G-proteins

Postzygotic mosaic variants in G-proteins are associated with isolated capillary malformations, Sturge-Weber syndrome (SWS) and phakomatosis pigmentovascularis. As part of an ongoing multi-institutional study of vascular malformations and overgrowth, we identified 18 patients with alterations in GNAQ and closely related GNA11, and sought to better characterize the phenotype associated with mosaic G-protein variants. DNA was extracted from affected tissue and submitted for targeted sequencing using a customized panel enriched for oncogenic pathway genes.

Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: S.R. Blumenthal, Y. Chiu, E. Baselga-Torres, P. Burrows, H. Ciliberto, C. Cottrell, E. Pope, J. Streicher, M. Tollefson, B. Drolet Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research