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Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome

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Abstract

When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson–Weiss, and Saethre–Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with proptosis, and midface hypoplasia. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3 cause craniosynostosis. We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. This is a mutation not previously described in the Pfeiffer syndrome but reported in the Crouzon, Jackson–Weiss, and Saethre–Chotzen syndromes. In this paper, we propose the concept that these disorders may represent one genetic condition with phenotypic variability.

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Abbreviations

FGFR 1-2-3 :

fibroblast growth factor receptor 1, 2, 3 genes

TWIST1 :

twist transcription factor 1 gene

MSX2 :

muscle segment homeobox gene 2

EFNB 1 :

ephrin B1 gene

L1CAM :

L1 cell adhesion molecule gene

Ig II–III:

immune globulin like domain II and III

S252W:

amino acid substitution serine in tryptophan

P253R:

amino acid substitution proline in arginine

Q289P:

amino acid substitution glutamine in proline

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Correspondence to Maria Piccione.

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Piccione, M., Antona, V., Niceta, M. et al. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. Eur J Pediatr 168, 1135–1139 (2009). https://doi.org/10.1007/s00431-008-0884-x

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  • DOI: https://doi.org/10.1007/s00431-008-0884-x

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