Fibroblast growth factor receptor 2 (FGFR2) mutation related syndromic craniosynostosis

Saïd C. Azoury, Sashank Reddy, Vivek Shukla, Chu Xia Deng

Research output: Contribution to journalReview article

Abstract

Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and involve single suture fusion, whereas syndromic cases often involve complex multiple suture fusion. The fibroblast growth factor receptor 2 (FGFR2) gene is perhaps the most extensively studied gene that is mutated in various craniosynostotic syndromes including Crouzon, Apert, Pfeiffer, Antley-Bixler, Beare-Stevenson cutis gyrata, Jackson-Weiss, Bent Bone Dysplasia, and Seathre-Chotzen-like syndromes. The majority of these mutations are missense mutations that result in constitutive activation of the receptor and downstream molecular pathways. Treatment involves a multidisciplinary approach with ultimate surgical fixation of the cranial deformity to prevent further sequelae. Understanding the molecular mechanisms has allowed for the investigation of different therapeutic agents that can potentially be used to prevent the disorders. Further research efforts are need to better understand screening and effective methods of early intervention and prevention. Herein, the authors provide a comprehensive update on FGFR2-related syndromic craniosynostosis.

Original languageEnglish (US)
Pages (from-to)1479-1488
Number of pages10
JournalInternational Journal of Biological Sciences
Volume13
Issue number12
DOIs
StatePublished - Nov 2 2017

Fingerprint

Receptor, Fibroblast Growth Factor, Type 2
Craniosynostoses
sutures
Sutures
mutation
Craniofacial Dysostosis
Cranial Sutures
Developmental Bone Disease
Acrocephalosyndactylia
Mutation
gene
Live Birth
Missense Mutation
Genes
fixation
bone
missense mutation
complications (disease)
Incidence
genes

Keywords

  • Craniosynostosis
  • Fibroblast growth factor receptor
  • Mutations
  • Syndromic

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Applied Microbiology and Biotechnology
  • Molecular Biology
  • Developmental Biology
  • Cell Biology

Cite this

Fibroblast growth factor receptor 2 (FGFR2) mutation related syndromic craniosynostosis. / Azoury, Saïd C.; Reddy, Sashank; Shukla, Vivek; Deng, Chu Xia.

In: International Journal of Biological Sciences, Vol. 13, No. 12, 02.11.2017, p. 1479-1488.

Research output: Contribution to journalReview article

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