Pfeifferʼs Syndrome Resulting From an S351C Mutation in the Fibroblast Growth Factor Receptor-2 Gene
Copyright policy )Pfeifferʼs 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.
- Erasmus University Rotterdam Netherlands
Infant, Newborn, Receptor Protein-Tyrosine Kinases, Sequence Analysis, DNA, Acrocephalosyndactylia, Polymerase Chain Reaction, Receptors, Fibroblast Growth Factor, Amino Acid Substitution, EMC MGC-02-50-02-A, Serine, Humans, Point Mutation, Female, Cysteine, Receptor, Fibroblast Growth Factor, Type 2, EMC MGC-02-96-01
Infant, Newborn, Receptor Protein-Tyrosine Kinases, Sequence Analysis, DNA, Acrocephalosyndactylia, Polymerase Chain Reaction, Receptors, Fibroblast Growth Factor, Amino Acid Substitution, EMC MGC-02-50-02-A, Serine, Humans, Point Mutation, Female, Cysteine, Receptor, Fibroblast Growth Factor, Type 2, EMC MGC-02-96-01
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