Table 1.
Clinical phenotype and RASAI changes observed in patients with KTS and patients with CMO
| Patient | Diagnosis | Sex | Age, years | Location | Additional features | RASAI change |
|---|---|---|---|---|---|---|
| 1 | KTS | F | 19 | RLE | – | |
| 2 | KTS | M | 10 | LLE | – | |
| 3 | KTS | M | 7 | RLE and trunk | – | |
| 4 | KTS | M | 43 | RLE | macrodactyly | – |
| 5 | KTS | M | 21 | LLE | – | |
| 6 | KTS | F | 26 | RLE | – | |
| 7 | KTS | M | 43 | LLE | insignificant microfistules | – |
| 8 | KTS | M | 42 | LLE | – | |
| 9 | KTS | M | 6 | LLE | feet syndactyly, macrodactyly | – |
| 10 | KTS | F | 21 | RLE | – | |
| 11 | KTS | M | 53 | both LE | feet syndactyly 2/3 | p.A99V; rs111840875 |
| 12 | KTS | M | 21 | LUE | p.A99V; rs111840875 | |
| 13 | KTS | F | 29 | 4 extremities | – | |
| 14 | CMO | M | 35 | RLE | – | |
| 15 | CMO | F | 40 | RLE | – | |
| 16 | CMO | M | 10 | right hemihypertrophy | telangiectasias | – |
| 17 | CMO | M | 10 | RLE | – | |
| 18 | CMO | F | 9 | RLE and trunk | – | |
| 19 | CMO | F | 6 | RLE | – | |
| 20 | CMO | M | 9 | both LE, RLE>LLE | – | |
| 21 | CMO | F | 52 | RLE | dilated veins | c.540-27G>A; rs13157168 |
| 22 | CMO | M | 28 | right hemihypertrophy | – | |
| 23 | CMO | M | 27 | RLE | dilated veins | – |
| 24 | CMO | F | 20 | LLE | dilated veins | – |
| 25 | CMO | M | 1 | LUE and trunk | – | |
| 26 | CMO | M | 17 | RLE | dilated veins | – |
| 27 | CMO | M | 29 | LLE | dilated veins | – |
| 28 | CMO | F | 20 | LLE | – | |
| 29 | CMO | M | 20 | LLE | dilated veins | – |
| 30 | CMO | M | 30 | LLE | dilated veins | – |
RLE = Right lower extremity
LLE = left lower extremity
LUE = left upper extremity.
Numbering of nucleotides is based on the cDNA sequence NM_002890.1 with A of the start ATG codon as +1.