A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

Thomy J L de Ravel; Indira B Taylor; Alex J T Van Oostveldt; Jean-Pierre Fryns; Andrew O M Wilkie

doi:10.1038/sj.ejhg.5201325

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

Eur J Hum Genet. 2005 Apr;13(4):503-5. doi: 10.1038/sj.ejhg.5201325.

Authors

Thomy J L de Ravel¹, Indira B Taylor, Alex J T Van Oostveldt, Jean-Pierre Fryns, Andrew O M Wilkie

Affiliation

¹ Center for Human Genetics, UZ Gasthuisberg, KU Leuven, Leuven, Belgium.

PMID: 15523492
DOI: 10.1038/sj.ejhg.5201325

Abstract

We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance. Our observations expand both the clinical and molecular spectrum of this unusual subset of FGFR2 mutations.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Acrocephalosyndactylia / diagnosis
Acrocephalosyndactylia / genetics*
Adult
Amino Acid Sequence
Amino Acid Substitution
Child
Child, Preschool
Craniofacial Dysostosis / diagnosis
Craniofacial Dysostosis / genetics*
Female
Heterozygote
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation, Missense / genetics*
Pedigree
Polymerase Chain Reaction
Receptor Protein-Tyrosine Kinases / genetics*
Receptor, Fibroblast Growth Factor, Type 2
Receptors, Fibroblast Growth Factor / genetics*
Sequence Homology, Amino Acid

Substances

Receptors, Fibroblast Growth Factor
FGFR2 protein, human
Receptor Protein-Tyrosine Kinases
Receptor, Fibroblast Growth Factor, Type 2