WP5437 - GNAQ pathways in port-wine stain - Homo sapiens

Port-wine stains are caused by somatic, mosaic mutations in the GNAQ gene. The pathogenic variant is usually a p.R183Q (c.G548A) mutation in guanine nucleotide binding protein alpha subunit q (GNAQ), primarily expressed in endothelial cells. This pathway shows predicted downstream targets of GNAQ that have been implicated in cell proliferation and survival, which leads to angiogenesis and capillary overgrowth.

The resulting capillary malformation (CM) causes visibly pink, dark red, or purple discoloration of skin. Such "port wine stain" (PWS) of the skin is usually apparent at birth. It has a prevalence of 3-5 children per 1000 live births. PWS lesions, also known as nevus flammeus, are permanent but treatable by laser and topical therapies. In approximately 1 in 50,000 newborns, PWS is associated with Sturge-Weber syndrome (SWS), a more serious condition that has symptoms including glaucoma, seizures, and developmental delay.

This diagram is based on figure 2 in Van Trigt et al. (2022).