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 degr...

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Published inThe Journal of craniofacial surgery Vol. 9; no. 3; p. 207
Main Authors Mathijssen, I M, Vaandrager, J M, Hoogeboom, A J, Hesseling-Janssen, A L, van den Ouweland, A M
Format Journal Article
LanguageEnglish
Published United States 01.05.1998
Subjects
Acrocephalosyndactylia - genetics
Amino Acid Substitution
Cysteine - genetics
Female
Humans
Infant, Newborn
Point Mutation
Polymerase Chain Reaction
Receptor Protein-Tyrosine Kinases - genetics
Receptor, Fibroblast Growth Factor, Type 2
Receptors, Fibroblast Growth Factor - genetics
Sequence Analysis, DNA
Serine - genetics
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Summary: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.
ISSN:1049-2275
DOI:10.1097/00001665-199805000-00004