Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 9 (2), 165-72

Apert Syndrome Results From Localized Mutations of FGFR2 and Is Allelic With Crouzon Syndrome

Affiliations

Apert Syndrome Results From Localized Mutations of FGFR2 and Is Allelic With Crouzon Syndrome

A O Wilkie et al. Nat Genet.

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.

Comment in

Similar articles

See all similar articles

Cited by 171 PubMed Central articles

See all "Cited by" articles

Publication types

MeSH terms

Substances

LinkOut - more resources

Feedback