Phenotypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation

Abstract

Background: A somatic mutation of GNAQ (c.548G˃A, p.Arg183Gln) plays a key role in capillary malformation development. The present study aimed to evaluate clinical manifestations of port-win stain (PWS) associated with this genetic mutation. Methods: Skin tissue was obtained from 70 patients with capillary malformation who had been treated with excision for lesions. Droplet digital polymerase chain reaction was used to quantify the abundance of cells with the GNAQ mutation. Results: The GNAQ mutation was found in 50 patients. Patients with lesions involving upper facial region, which included forehead, eyebrow, and upper eyelid, showed a significantly higher rate of positive GNAQ mutation than those not involving it. Cases with facial PWS involving all three facial regions (upper, middle, and lower) showed significantly higher positive rate of GNAQ mutation compared to those involving one or two. Conclusions: Presence of the somatic mutation GNAQ p.Arg183Gln might be associated with clinical manifestations of PWS.