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PMID:7987400

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Citation

Reardon, W, Winter, RM, Rutland, P, Pulleyn, LJ, Jones, BM and Malcolm, S (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat. Genet. 8:98-103

Abstract

Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25-q26. We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. We found SSCP variations in the B exon of FGFR2 in nine unrelated affected individuals as well as complete cosegregation between SSCP variation and disease in three unrelated multigenerational families. In four sporadic cases, the normal parents did not have SSCP variation. Finally, direct sequencing has revealed specific mutations in the B exon in all nine sporadic and familial cases, including replacement of a cysteine in an immunoglobulin-like domain in five patients.

Links

PubMed Online version:10.1038/ng0994-98

Keywords

Base Sequence; Chromosomes, Human, Pair 10; Craniofacial Dysostosis/genetics; Exons; Female; Humans; Lod Score; Male; Molecular Sequence Data; Mutation; Pedigree; Polymorphism, Single-Stranded Conformational; Receptor Protein-Tyrosine Kinases/genetics; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor/genetics

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

HUMAN:FGFR2

GO:0048701: embryonic cranial skeleton morphogenesis

ECO:0000315:

P

Figure 4. Direct sequencing of Crouzon syndrome FGFR2 mutations.

complete
CACAO 3435


See also

References

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