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S267P mutation in FGFR2: first report in a patient with Crouzon syndrome

Ronghu Ke1, Xianxian Yang, Min Ge

  • 1From the *Department of Plastic and Reconstructive Surgery, Huashan Hospital, Fudan University School of Medicine; and the †Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jaio Tong University School of Medicine, Shanghai, China.

The Journal of Craniofacial Surgery
|March 12, 2015
PubMed

Insights

Fibroblast growth factor receptor 2 (FGFR2) gene mutations cause craniosynostosis syndromes. A novel S267P mutation in FGFR2 was identified in a patient with Crouzon syndrome, expanding the known genetic causes.

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Syndromic craniosynostosis, including Apert, Crouzon, and Pfeiffer syndromes, are known to be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene.
  • FGFR2 mutations lead to premature fusion of cranial sutures, impacting skull development.

Observation:

  • A patient clinically diagnosed with Crouzon syndrome was analyzed for genetic mutations.
  • The study focused on identifying specific genetic alterations within the FGFR2 gene in this patient.

Findings:

  • A novel missense point mutation, S267P, was identified in the FGFR2 gene of the Crouzon syndrome patient.
  • This S267P mutation is reported for the first time in association with Crouzon syndrome.

Implications:

  • The discovery of the S267P mutation expands the known molecular spectrum of FGFR2 mutations in Crouzon syndrome.
  • This finding contributes to a better understanding of the genetic heterogeneity underlying syndromic craniosynostosis.
  • Further research may elucidate the specific pathogenic mechanisms of this novel FGFR2 mutation.

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