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European Journal of Pediatrics

, Volume 168, Issue 9, pp 1135–1139 | Cite as

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

  • Maria PiccioneEmail author
  • Vincenzo Antona
  • Marcello Niceta
  • Carmelo Fabiano
  • Manuela Martines
  • Alberto Bianchi
  • Giovanni Corsello
Short Report

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.

Keywords

Pfeiffer Crouzon Apert Craniosynostosis Finger and toes abnormalities Fibroblast growth factor receptor 

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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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Maria Piccione
    • 1
    Email author
  • Vincenzo Antona
    • 1
  • Marcello Niceta
    • 2
  • Carmelo Fabiano
    • 2
  • Manuela Martines
    • 1
  • Alberto Bianchi
    • 3
  • Giovanni Corsello
    • 1
  1. 1.Dipartimento Materno InfantileUniversità di PalermoPalermoItaly
  2. 2.Laboratorio di GeneticaA.O. V. CervelloPalermoItaly
  3. 3.Chirurgia Orale e Maxillo- FaccialePoliclinico S. Orsola-MalpighiBolognaItaly

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