RGD Reference Report - Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. - Rat Genome Database

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Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

Authors: Jabs, E W  Li, X  Scott, A F  Meyers, G  Chen, W  Eccles, M  Mao, J I  Charnas, L R  Jackson, C E  Jaye, M 
Citation: Jabs EW, etal., Nat Genet. 1994 Nov;8(3):275-9.
RGD ID: 12801470
Pubmed: PMID:7874170   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1194-275   (Journal Full-text)

Jackson-Weiss syndrome is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. FGFR2 is a member of the tyrosine kinase receptor superfamily, having a high affinity for peptides that signal the transduction pathways for mitogenesis, cellular differentiation and embryogenesis. We now report an FGFR2 mutation in the conserved region of the immunoglobulin IIIc domain in the Jackson-Weiss syndrome family in which the syndrome was originally described. In addition, in four of 12 Crouzon syndrome cases, we identified two new mutations and found two previously described mutations in the same region.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FGFR2HumanCrouzon syndrome  IAGP DNA:missense mutations and silent mutation:cds:multiple (human)RGD 
Fgfr2RatCrouzon syndrome  ISOFGFR2 (Homo sapiens)DNA:missense mutations and silent mutation:cds:multiple (human)RGD 
Fgfr2MouseCrouzon syndrome  ISOFGFR2 (Homo sapiens)DNA:missense mutations and silent mutation:cds:multiple (human)RGD 
FGFR2HumanJackson-Weiss syndrome  IAGP DNA:missense mutation:cds:p.R344G (human)RGD 
Fgfr2RatJackson-Weiss syndrome  ISOFGFR2 (Homo sapiens)DNA:missense mutation:cds:p.R344G (human)RGD 
Fgfr2MouseJackson-Weiss syndrome  ISOFGFR2 (Homo sapiens)DNA:missense mutation:cds:p.R344G (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fgfr2  (fibroblast growth factor receptor 2)

Genes (Mus musculus)
Fgfr2  (fibroblast growth factor receptor 2)

Genes (Homo sapiens)
FGFR2  (fibroblast growth factor receptor 2)


Additional Information