Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature

Am J Med Genet. 2000 Jul 3;93(1):22-8. doi: 10.1002/1096-8628(20000703)93:1<22::aid-ajmg5>;2-u.


We report on a patient with the skeletal findings of Jackson-Weiss syndrome, who manifests only mild craniofacial anomalies. Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations. Mutations in the immunoglobulin-like, II-III (IgII-III) linker region of FGFR1 and FGFR3 molecules may present as a skeletal dysplasia affecting the appendicular skeleton including, brachydactyly, short broad middle phalanges, phalangeal epiphyseal coning and broad halluces. This communication is a further example of the phenomenon of an activated FGFR molecule resulting in overlapping manifestations in FGFR syndromes.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Base Sequence
  • Child
  • DNA Primers
  • Facies
  • Female
  • Humans
  • Mutation, Missense*
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics
  • Radiography
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptor, Fibroblast Growth Factor, Type 1
  • Receptors, Fibroblast Growth Factor / genetics*
  • Syndrome


  • DNA Primers
  • Receptors, Fibroblast Growth Factor
  • FGFR1 protein, human
  • Receptor Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 1