Thanatophoric Dysplasia is associated with which mutation?

Thanatophoric dysplasia is a severe skeletal dysplasia characterized by short limbs, a narrow chest, and various skeletal abnormalities, often leading to perinatal mortality. The condition is primarily associated with mutations in the FGFR3 gene (Fibroblast Growth Factor Receptor 3).

FGFR3 plays a crucial role in bone growth and development, and mutations in this gene lead to the abnormal function of the receptor, causing disruption in endochondral ossification, which is the process of bone formation. This mutation typically results in an inhibition of chondrocyte proliferation and function, leading to the distinctive skeletal features seen in thanatophoric dysplasia.

The other mutations listed are linked to different genetic conditions: COL1A1 is related to osteogenesis imperfecta, FGFR2 mutations are associated with various craniosynostosis syndromes, and RB1 mutations are connected to retinoblastoma. These associations highlight the specific nature of the FGFR3 mutation in causing thanatophoric dysplasia specifically, emphasizing its pivotal role in skeletal development.