Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation

Post-zygotic mutations in GNAQ/GNA11 genes encoding heterotrimeric G protein alpha subunits account for skin mosaic conditions with vascular or pigmentary anomalies (Shirley et al. 2013; Thomas et al. 2016; Couto et al. 2017; Siegel et al. 2018). We sought to delineate the phenotype of 32 patients with skin capillary malformations (CMs) harbouring an activating post-zygotic mutation in GNA11 or GNAQ in affected skin. Nevus flammeus, ipsilateral segmental overgrowth, varicose veins and macrocephaly were associated with GNAQ mutations, whereas cutis marmorata, nevus anemicus, and ipsilateral hypotrophy were associated with GNA11 mutations.

Source: Journal of Investigative Dermatology - November 10, 2019 Category: Dermatology Authors: Maud Jordan, Virginie Carmignac, Arthur Sorlin, Paul Kuentz, Juliette Albuisson, Luca Borradori, Emmanuelle Bourrat, Odile Boute, Nenad Bukvic, Anne-Claire Bursztejn, Christine Chiaverini, Bruno Delobel, Marine Fournet, Jehanne Martel, Alice Goldenberg, S Tags: Letters to the Editor Source Type: research