Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
For four of the most well-known craniosynostosis syndromes--Apert's, Crouzon's, Pfeiffer's, and Jackson-Weiss' syndromes--mutations in the fibroblast growth factor receptors (FGFRs) have been described. These substitutions arise mainly in the FGFR-2 gene and to a much lesser degree in the FGFR-1 and FGFR-3 genes. We present a patient with an apparently sporadic type of Pfeiffer's syndrome, exhibiting nearly all associated features of this syndrome. A mutation in the FGFR-2 gene was found, namely serine351-cysteine. This mutation has been reported in only one patient so far, whose phenotype could match both Crouzon's and Pfeiffer's syndromes.
Department of Plastic and Reconstructive Surgery, University Hospital Rotterdam, The Netherlands.
I M
IM
Mathijssen
J M
JM
Vaandrager
A J
AJ
Hoogeboom
A L
AL
Hesseling-Janssen
A M
AM
van den Ouweland
D000168:Acrocephalosyndactylia / Q000235:genetics*; D019943:Amino Acid Substitution; D003545:Cysteine / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012694:Serine / Q000235:genetics
D017468:Receptors, Fibroblast Growth Factor; D012694:Serine; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2; D003545:Cysteine