Molecular Characteristics of Port Wine Stains

Port wine stains are capillary malformations that are typically located in the dermis of the head and neck. They affect 0.3% of the population. Current theories suggest that port wine stains are caused by somatic mutations that disrupt vascular development. I hypothesize that port wine stains are multifactorial and understanding their genetic determinants could provide insight into novel treatments. This study used a custom next generation sequencing panel and digital polymerase chain reaction to investigate genetic variants in 12 isolated port wine stain cases (i.e., individuals with port wine stain alone). Novel variants were identified in GNAQ, SOX10, and RASA1. The previously identified GNAQ c.548G>A, p.Arg183Gln mutation was confirmed in 9 of 12 cases with an allele frequency ranging from 1.73 to 7.42%. The custom next generation sequencing panel allowed for detection of low level mosaicism found in 10 of 12 isolated port wine stain cases. A novel GNAQ c.547C>G, p.Arg183Gly mutation was identified in one case. Digital polymerase chain reaction confirmed novel variants detected by next generation sequencing. The results from both methods were highly concordant providing an effective way to detect low level mosaicism in port wine stains. Importantly, the identification of novel genetic mutations in port wine stains may facilitate the development of novel treatments.