Table 1.
Fibroblast Growth Factor Receptor 3 Mutations in Human Disease
| Germline gain of function | Somatic gain of function |
|---|---|
| Achondroplasia | Ovarian and urothelial cancer |
| Crouzon syndrome with acanthosis nigricans | Glioblastoma and lung cancer |
| Hypochondroplasia | Lymphoma |
| Muenke syndrome | Multiple myeloma |
| PLSD-SD | Urothelial cancer |
| SADDAN | Gallbladder cancer |
| Thanatophoric dysplasia | Lung cancer |
| Mosaic gain of function | Loss of function |
|---|---|
| KENS | LADD syndrome47 |
As reviewed by Katoh.37
KENS, keratinocyte epidermal naevus syndrome; LADD, lacrimo-auriculo-dento-digital syndrome; PLSD-SD, platyspondylic lethal skeletal dysplasias, San Diego Types.