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.
Mathijssen
I M
IM
Department of Plastic and Reconstructive Surgery, University Hospital Rotterdam, The Netherlands.
Vaandrager
J M
JM
Hoogeboom
A J
AJ
Hesseling-Janssen
A L
AL
van den Ouweland
A M
AM
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