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Published on: July 5, 2019

Clinical spectrum of fibroblast growth factor receptor mutations

M R Passos-Bueno1, W R Wilcox, E W Jabs

  • 1Departamento Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil. passos@usp.br

Human Mutation
|July 29, 1999
PubMed

Insights

Mutations in fibroblast growth factor receptor genes (FGFR1, FGFR2, FGFR3) cause syndromic craniosynostosis and short-limb dwarfism. This review details these mutations, associated phenotypes, and potential causative mechanisms.

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Syndromic craniosynostosis and short-limb dwarfism encompass 11 distinct clinical conditions.
  • Recent research links these disorders to mutations in fibroblast growth factor receptor genes (FGFR1, FGFR2, FGFR3).

Purpose of the Study:

  • To compile a comprehensive list of all identified mutations in FGFR1, FGFR2, and FGFR3.
  • To correlate these genetic mutations with their associated clinical phenotypes.
  • To discuss proposed mechanisms underlying these genetic disorders.

Main Methods:

  • Literature review of published studies on FGFR gene mutations.
  • Systematic compilation of mutation data and associated phenotypes.
  • Analysis of proposed genotype-phenotype correlations and causative mechanisms.

Main Results:

  • Detailed catalog of mutations within FGFR1, FGFR2, and FGFR3 genes.
  • Comprehensive documentation of the diverse phenotypes linked to specific mutations.
  • Identification of recurring mutation patterns and their phenotypic consequences.

Conclusions:

  • FGFR gene mutations are a primary cause of syndromic craniosynostosis and short-limb dwarfism.
  • Understanding genotype-phenotype correlations aids in diagnosis and potential therapeutic strategies.
  • Further research into causative mechanisms can inform future treatment approaches.

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