Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

Article Details

Citation

Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

Nat Genet. 1994 Sep;8(1):98-103.

PubMed ID
7987400 [ View in PubMed
]
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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Fibroblast growth factor receptor 2P21802Details