Clin Genet. 2000 Feb;57(2):137-9.

Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

von Gernet S, Golla A, Ehrenfels Y, Schuffenhauer S, Fairley JD.

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Abteilung für plastische Chirurgie, Städt. Krankenhaus Bogenhausen, München, Germany.

Abstract

Apert syndrome is an autosomal dominant condition characterized by craniosynostosis and severe syndactyly, caused by two recurrent mutations in the fibroblast growth factor receptor 2 gene (FGFR2). The genotype-phenotype correlations of 21 patients with Apert syndrome were analysed as to the craniofacial appearance following surgery and the degree of syndactlyly. The craniofacial appearance following craniofacial surgery was better in patients with the P253R mutation, whereas these patients showed a more pronounced severity of the syndactyly.

PMID:: 10735635; [PubMed - indexed for MEDLINE]

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Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. [J Med Genet. 1998]
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A soluble form of fibroblast growth factor receptor 2 (FGFR2) with S252W mutation acts as an efficient inhibitor for the enhanced osteoblastic differentiation caused by FGFR2 activation in Apert syndrome. [J Biol Chem. 2004]
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Review [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].
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Review Craniosynostosis and related limb anomalies. [Novartis Found Symp. 2001]
Review Craniosynostosis and related limb anomalies.
Wilkie AO, Oldridge M, Tang Z, Maxson RE Jr. Novartis Found Symp. 2001; 232:122-33; discussion 133-43.

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Cited by 2 PubMed Central articles

Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth. [Dev Dyn. 2010]
Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth.
Martínez-Abadías N, Percival C, Aldridge K, Hill CA, Ryan T, Sirivunnabood S, Wang Y, Jabs EW, Richtsmeier JT. Dev Dyn. 2010 Nov; 239(11):3058-71.
Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice. [BMC Dev Biol. 2010]
Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice.
Wang Y, Sun M, Uhlhorn VL, Zhou X, Peter I, Martinez-Abadias N, Hill CA, Percival CJ, Richtsmeier JT, Huso DL, et al. BMC Dev Biol. 2010 Feb 22; 10:22. Epub 2010 Feb 22.

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