FGFR3 Gene: Medical Conditions
Mutations in the FGFR3 can cause several different diseases, including:
Achondroplasia
Achondroplasia is caused by mutations in the FGFR3 gene.
Two mutations in the FGFR3 gene cause more than 99% of cases of achondroplasia. Both of these mutations change a single amino acid (a building block of proteins) in the FGFR3 protein. Researchers believe that these mutations in the FGFR3 gene cause the receptor to be overly active, which leads to the disturbances in bone growth seen with this disorder.
Crouzonodermoskeletal Syndrome
Crouzonodermoskeletal syndrome is caused by mutations in the FGFR3 gene
It is not yet known how this mutation leads to the signs and symptoms seen with this disorder, but researchers have found that the mutated receptor shows an increased response to growth factors.
Hypochondroplasia
Hypochondroplasia is caused by mutations in the FGFR3 gene.
The effects of these mutations have not been explained, but it is likely that they cause the receptor to be mildly over activated.
Muenke Syndrome
Muenke syndrome is caused by mutations in the FGFR3 gene.
Only one mutation in the FGFR3 gene has been shown to cause Muenke syndrome. The resulting abnormal receptor allows the bones of the skull to fuse before they should. Interestingly, these mutations also cause conditions featuring premature fusion of the skull bones (craniosynostosis).
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