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Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2. The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis.

Original publication




Journal article


Nat Genet

Publication Date





165 - 172


Acrocephalosyndactylia, Alleles, Amino Acid Sequence, Base Sequence, Craniofacial Dysostosis, DNA, Complementary, Exons, Female, Genetic Markers, Genotype, Humans, Male, Molecular Sequence Data, Mutation, Polymorphism, Single-Stranded Conformational, Receptor Protein-Tyrosine Kinases, Receptor, Fibroblast Growth Factor, Type 2, Receptors, Fibroblast Growth Factor, Restriction Mapping, Syndactyly