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PMID:7874170

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Citation

Jabs, EW, Li, X, Scott, AF, Meyers, G, Chen, W, Eccles, M, Mao, JI, Charnas, LR, Jackson, CE and Jaye, M (1994) Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat. Genet. 8:275-9

Abstract

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.

Links

PubMed Online version:10.1038/ng1194-275

Keywords

Alleles; Amino Acid Sequence; Animals; Chromosome Mapping; Chromosomes, Human, Pair 10; Consensus Sequence; Craniofacial Dysostosis/genetics; Craniosynostoses/genetics; DNA Mutational Analysis; Female; Foot Deformities, Congenital/genetics; Genes; Hand Deformities, Congenital/genetics; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Receptor Protein-Tyrosine Kinases/chemistry; Receptor Protein-Tyrosine Kinases/genetics; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor/chemistry; Receptors, Fibroblast Growth Factor/genetics; Sequence Alignment; Sequence Homology, Amino Acid; Species Specificity; Syndrome

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:FGFR2

involved_in

GO:0048701: embryonic cranial skeleton morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

See also

References

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