FGFR3 P350R is associated with the development of Muenke syn...

created [InstanceEdit:2064374] Rothfels, K, 2012-01-18
dbId 2064375
displayName FGFR3 P350R is associated with the development of Muenke syn...
modified [InstanceEdit:2085584] Rothfels, K, 2012-02-03
schemaClass Summation
text FGFR3 P350R is associated with the development of Muenke syndrome, a milder craniosynostotic condition than Apert Syndrome (Bellus, 1996; Reardon, 1997). This mutation, which falls in the highly conserved Ser-Pro dipeptide in the IgII-IgIII linker, has been shown to increase the affinity of the receptor for its natural ligands, particularly for FGF9 (Ibrahimi, 2004a), without expanding the ligand-binding range of the receptor. This difference, compared to the paralogous FGFR2 S252W and P253R mutations, which bind an expanded range of ligands, is thought to account for the milder phenotype of Muenke Syndrome (Yu, 2000; Ibrahimi, 2004a, b).
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