Mutation detection in FGFR2 craniosynostosis syndromes

Georgina E. Hollway*, Graeme K. Suthers, Eric A. Haan, Elizabeth Thompson, David J. David, Jozef Gecz, John C. Mulley

*Corresponding author for this work

Research output: Contribution to journalArticle

46 Citations (Scopus)


Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight of the nine mutations found have been reported, but one patient with Pfeiffer syndrome was found to have a novel G-to-C splice site mutation at -1 relative to the start of exon IIIc. Of those mutations previously reported, the mutation C1205G was unusual in that it was found in two related patients, one with clinical features of Pfeiffer syndrome and the other having mild Crouzon syndrome. This degree of phenotypic variability shows that the clinical features associated with a specific mutation do not necessarily breed true.

Original languageEnglish
Pages (from-to)251-255
Number of pages5
JournalHuman Genetics
Issue number2
Publication statusPublished - Feb 1997
Externally publishedYes

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