Table 2.
Participants Screened for GNAQ and GNA11 Variants
| Participant | Phenotype | Age | Sex | Location | Source | Variant | RNA | DNA (MIP-seq) | DNA (ddPCR) | Control DNA (ddPCR) |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NICH | 8 years | male | chest | frozen tissue | GNAQ pGlu209Leu (c.626A>T) | 2/6 (33%) | – | 101/1,853 (5%) | 0/1,499 (0%) |
| 2 | NICH | 9 years | male | neck | frozen tissue | GNAQ pGlu209Pro (c.626A>C) | 1/10 (10%) | – | 392/6,061 (6%) | 0/2,215 (0%) |
| 3 | NICH | 14 years | female | temple | frozen tissue | GNA11 pGlu209Leu (c.626A>T) | 15/124 (12%) | 13/211 (6%) | 84/1,042 (8%) | 0/2,498 (0%) |
| 4 | NICH | 5 years | male | nose | frozen tissue | GNAQ pGlu209Leu (c.626A>T) | 3/15 (20%) | – | 235/3,233 (7%) | 0/2,359 (0%) |
| 5 | NICH | 7 years | male | nose | frozen tissue | GNAQ pGlu209Leu (c.626A>T) | 7/51 (14%) | – | 61/759 (8%) | – |
| 6 | NICH | 2.5 years | male | neck | frozen tissue | GNA11 pGlu209Leu (c.626A>T) | 3/103 (3%) | – | 15/633 (2%) | – |
| 7 | RICH | 3 years | male | lower extremity | frozen tissue | GNAQ pGlu209His (c.627A>C) | 7/30 (23%) | – | – | – |
| 8 | RICH | 1 week | male | orbital area | frozen tissue | GNAQ pGlu209Leu (c.626A>T) | 6/31 (19%) | – | – | – |
| 9 | NICH | 12 years | male | lower extremity | FFPE tissue | GNAQ pGlu209Pro (c.626A>C) | – | 1139/19,657 (6%) | 125/1,089 (11%) | – |
| 10 | NICH | 14 months | male | lower extremity | FFPE tissue | NA | – | 3/1,383 (< 1%) | 0/640 (0%) | – |
| 11 | RICH | 3 months | male | lower extremity | FFPE tissue | GNAQ pGlu209Leu (c.626A>T) | – | - | 26/717 (4%) | – |
| 12 | NICH | 3 years | male | ear | FFPE tissue | NA | – | 1/400 (< 1%) | - | – |
| 13 | RICH | 2 weeks | female | upper extremity | FFPE tissue | NA | – | 2/772 (< 1%) | 0/516 (0%) | – |
| 14 | NICH | 2 years | male | lower extremity | FFPE tissue | NA | – | 2/179 (1%) | 0/152 (0%) | – |
| 15 | RICH | 2 weeks | male | lower extremity | FFPE tissue | GNA11 pGlu209Leu (c.626A>T) | – | – | 27/2,576 (1%) | – |
| 16 | RICH | 4 months | male | liver | FFPE tissue | GNA11 pGlu209Leu (c.626A>T) | – | – | 52/537 (10%) | – |
| 17 | CHOR | neonatal | female | placenta | FFPE tissue | NA | – | 0/850 (0%) | – | – |
| 18 | CHOR | neonatal | female | placenta | FFPE tissue | NA | – | 3/1,855 (< 1%) | – | – |
| 19 | CHOR | neonatal | female | placenta | FFPE tissue | NA | – | 3/1,875 (< 1%) | – | – |
| 20 | CHOR | neonatal | female | placenta | FFPE tissue | NA | – | 7/2,233 (< 1%) | – | – |
RNA and DNA (MIP-seq) columns indicate read depth, and DNA (ddPCR) column indicates number of droplets. The rate of variant/total alleles is also depicted in the aforementioned columns. For samples that were not associated with a mutation (indicated with NA), available MIP-seq and ddPCR results with the lowest power (in terms of read depth and number of droplets) are depicted. Control DNA samples were retrieved from blood or saliva. Abbreviations are as follows: NICH, non-involuting congenital hemangioma; RICH, rapidly involuting congential hemangioma; CHOR, chorangioma. Dash (–) indicates that the assay was not performed.