Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

Andrew O M Wilkie*, Sarah F. Slaney, Michael Oldridge, Michael D. Poole, Geraldine J. Ashworth, Anthony D. Hockley, Richard D. Hayward, David J. David, Louise J. Pulleyn, Paul Rutland, Susan Malcolm, Robin M. Winter, William Reardon

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

713 Citations (Scopus)

Abstract

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 languageEnglish
Pages (from-to)165-172
Number of pages8
JournalNature Genetics
Volume9
Issue number2
DOIs
Publication statusPublished - 1995
Externally publishedYes

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