Format

Send to

Choose Destination
See comment in PubMed Commons below
Nat Genet. 1995 Feb;9(2):165-72.

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

Author information

1
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.

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.

PMID:
7719344
DOI:
10.1038/ng0295-165
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Support Center