A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.

Abstract

We identified a novel mutation in members of a family with signs of Crouzon syndrome and plagiocephaly. In affected members of the family an A-->G transition was found at position 886 in exon 5 of the fibroblast growth factor receptor 2 (FGFR2) gene. The base change results in the replacement of a lysine by glutamic acid in Ig-like loop III of FGFR2. The unusual finding of plagiocephaly in these Crouzon patients may either be the result of the type of mutation or because of genetic and environmental factors that affect the phenotype in addition to the mutated FGF receptor.

• Authors: D Steinberger, H Collmann, B Schmalenberger, U Müller
• Journal: Journal of medical genetics (J Med Genet) Vol. 34 Issue 5 Pg. 420-2 (May 1997) ISSN: 0022-2593 [Print] England
• PMID: 9152842 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Receptors, Fibroblast Growth Factor

Topics

• Adult
• Craniofacial Abnormalities (diagnostic imaging, pathology)
• Craniofacial Dysostosis (diagnostic imaging, genetics, pathology)
• DNA Mutational Analysis
• Exons (genetics)
• Family Health
• Female
• Humans
• Infant
• Male
• Middle Aged
• Pedigree
• Phenotype
• Point Mutation (genetics)
• Radiography
• Receptors, Fibroblast Growth Factor (genetics)