JACKSON-WEISS-SYNDROME AND CROUZON-SYNDROME ARE ALLELIC WITH MUTATIONS IN FIBROBLAST GROWTH-FACTOR RECEPTOR-2

Jackson-Weiss syndrome is an autosomal dominant condition characterize d by craniosynostosis, foot anomalies and great phenotypic variability . Recently mutations in fibroblast growth factor receptor 2 (FGFR2) ha ve been found in patients with another craniosynostotic syndrome, Crou zon syndrome. FGFR2 is a member of the tyrosine kinase receptor superf amily, having a high affinity for peptides that signal the transductio n pathways for mitogenesis, cellular differentiation and embryogenesis . We now report an FGFR2 mutation in the conserved region of the immun oglobulin IIIc domain in the Jackson-Weiss syndrome family in which th e syndrome was originally described. In addition, in four of 12 Crouzo n syndrome cases, we identified two new mutations and found two previo usly described mutations in the same region.