PRESENCE OF THE APERT CANONICAL S252W FGFR2 MUTATION IN A PATIENT WITHOUT SEVERE SYNDACTYLY

Apert syndrome, characterised by craniosynostosis, craniofacial anomal ies, and symmetrical syndactyly of the digits (cutaneous and bony fusi on), has been associated with two canonical mutations in the FGFR2 gen e (S252W, P253R) in the great majority of cases. Since these two alter ations have been observed exclusively among these patients, it has bee n suggested that the S252W and P253R changes may play an important rol e in the occurrence of syndactyly. In order to verify whether the muta tions S252W and P253R could also cause a milder phenotype, without inv olvement of the limbs, we have screened 22 patients with clinical char acteristics compatible with Crouzon or Pfeiffer syndrome for these two particular changes. Surprisingly, we identified a Pfeiffer-Like patie nt with the mutation S252W, and therefore we have shown for the first time the occurrence of one of the canonical Apert mutations without se vere abnormalities of the upper and lower extremities.