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2015•Journal of Craniofacial SurgeryRequires access

S267P Mutation in FGFR2

Ronghu Ke, Xianxian Yang, Min Ge, Tianyi Cai, Jiaqi Lei, Xiongzheng Mu

Open publisher page 7 citations

Abstract

It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) result in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Here, we report on a child with a clinically diagnosed Crouzon syndrome that shows the missense point mutation S267P in FGFR2 gene. The mutation is firstly identified in Crouzon syndrome. Our observations expand the molecular spectrum of FGFR2 mutations in the syndrome.

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What this paper is about

It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) result in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Here, we report on a child with a clinically diagnosed Crouzon syndrome that shows the missense point mutation S267P in FGFR2 gene. The mutation is firstly identified in Crouzon syndrome. Our observations expand the molecular spectrum of FGFR2 mutations in the syndrome.

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OpenAlex reports 7 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) result in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Here, we report on a child with a clinically diagnosed Crouzon syndrome that shows the missense point mutation S267P in FGFR2 gene. The mutation is firstly identified in Crouzon syndrome. Our observations expand the molecular spectrum of FGFR2 mutations in the syndrome.

Key concepts: Crouzon syndrome, Apert syndrome, Medicine, Fibroblast growth factor receptor 2, Missense mutation, Craniosynostosis, Point mutation, Mutation

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