Table 1 Clinical phenotypes associated with each gene.
Gene | Total no. of patients | SNHL, n (% of study cohort) | Craniofacial anomaly | Skeletal anomaly | Cardiac defects | Pectus deformity | Skin/Hair anomaly | Multiple lentigines | Intellectual disability | Cryptorchidism in male | Malignancy | Coagulation disorder | Other related RASopathies |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPN11 | 51 | 16 (31.4) | 42 (82.4) | 48 (94.1) | 41 (80.4) | 33 (64.7) | 7 (13.7) | 9 (17.6) | 5 (9.8) | 9 (17.6) | 3 (5.9) | 7 (13.7) | 2 (3.9) |
RAF1 | 9 | 2 (22.2) | 9 (100) | 5 (55.6) | 9 (100) | 6 (66.7) | 3 (33.3) | 5 (55.6) | 1 (11.1) | 1 (11.1) | 0 (0) | 1 (11.1) | 0 (0) |
SHOC2 | 8 | 0 (0) | 7 (87.5) | 6 (75) | 8 (100) | 1 (12.5) | 6 (75) | 1 (12.5) | 6 (75) | 1 (12.5) | 0 (0) | 0 (0) | 0 (0) |
RIT1 | 7 | 0 (0) | 5 (71.4) | 4 (57.1) | 7 (100) | 5 (71.4) | 1 (14.3) | 1 (14.3) | 0 (0) | 1 (14.3) | 0 (0) | 0 (0) | 0 (0) |
BRAF | 6 | 0 (0) | 6 (100) | 5 (83.3) | 5 (83.3) | 2 (33.3) | 5 (83.3) | 3 (50) | 4 (66.7) | 1 (16.7) | 0 (0) | 2 (33.3) | 0 (0) |
SOS1 | 5 | 0 (0) | 4 (80) | 5 (100) | 4 (80) | 2 (40) | 1 (20) | 1 (20) | 0 (0) | 1 (20) | 0 (0) | 0 (0) | 0 (0) |
NRAS | 4 | 0 (0) | 4 (100) | 2 (50) | 4 (100) | 0 (0) | 3 (75) | 1 (25) | 2 (50) | 1 (25) | 1 (25) | 0 (0) | 1 (25) |
MAP2K1 | 2 | 0 (0) | 1 (50) | 2 (100) | 1 (50) | 1 (50) | 0 (0) | 0 (0) | 2 (100) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
KRAS | 1 | 0 (0) | 1 (100) | 1 (100) | 1 (100) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (100) | 0 (0) | 0 (0) | 0 (0) |
LZTR1 | 1 | 0 (0) | 1 (100) | 1 (100) | 1 (100) | 1 (100) | 0 (0) | 1 (100) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
Total | 94 | 18 | 80 | 79 | 81 | 51 | 26 | 22 | 20 | 16 | 4 | 10 | 3 |
