Table 1.
Patient demographics and PWS location.
Fig 1.
Case examples of port wine stains.
Case #7 with a PWS of the facial V2 and V3 dermatomes (1a) harbored the novel variant GNAQ p.Arg183Gly. The PWS on the shin of case #9 (1b) was negative for a GNAQ or RASA1 mutation.
Table 2.
Custom NGS and digital PCR results of the GNAQ somatic variant, p.Arg183Gln, c.548G>A.
Table 3.
Novel somatic variant found in GNAQ.
Fig 2.
NGS and dPCR results for GNAQ and RASA1 variants.
For 2a and 2b, left panels depict the NGS data with the respective somatic GNAQ mutation (arrow). Right panels show corresponding digital PCR results analyzed using the QuantStudio 3D AnalysisSuite software. Relative intensities of FAM were plotted against VIC. The mutant allele (blue) depicts the level of somatic mosaicism in the sample versus the wild type allele (red), both alleles (green), and no amplified alleles (yellow). For 2c and 2d, NGS data with the respective somatic RASA1 mutation (arrow) are shown from cases 5 and 7, respectively.