Genetic Variants Associated with Port-Wine Stains

摘要: Background Port-wine stains (PWS) are capillary malformations, typically located in the dermis of head and neck, affecting 0.3% population. Current theories suggest that port-wine caused by somatic mutations disrupt vascular development. Objectives Understanding PWS genetic determinants could provide insight into new treatments. Methods Our study used a custom next generation sequencing (NGS) panel digital polymerase chain reaction to investigate variants 12 individuals with isolated stains. Importantly, affected healthy skin tissue from same individual were compared. A subtractive correction method was developed eliminate background noise NGS data. This allowed detection very low level mosaicism. Results A novel variant GNAQ, c.547C>G, p.Arg183Gly found one case 4% allele frequency. The previously reported GNAQ c.548G>A, p.Arg183Gln confirmed 9 cases an frequency ranging 1.73 7.42%. Digital detected sequencing. Two also RASA1, although neither predicted be deleterious. Conclusions This is second largest on isolated, non-syndromic PWS. Our data main determinant this condition. Moreover, distinct malformations seen RASA1 disorders, which will helpful clinical evaluation.