FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.

Abstract excerpt

We describe a mutation in the FGFR2 gene in affected members of a large family with inherited autosomal dominant craniosynostosis. The mutation is a G1044A transition at codon 344 of exon B of the gene and results in abnormal splicing of the FGFR2 transcript. The phenotypic effect of the mutation varies greatly. It ranges from minor anomalies such as slight hypertelorism and maxillary hypoplasia to severe...

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Craniosynostoses
• Female
• Genes, Dominant
• Humans
• Male
• Middle Aged
• Mutation
• Pedigree
• Receptor Protein-Tyrosine Kinases
• Receptor, Fibroblast Growth Factor, Type 2
• Receptors, Fibroblast Growth Factor