Edited by: Steven Benowitz

ALLELIC TWINS: Jackson-Weiss and Crouzon syndromes are both caused by FGFR2 mutation, notes Johns Hopkins researcher Ethylin Jabs.
E.W. Jabs, X. Li, A.F. Scott, G. Meyers, W. Chen, M. Eccles, J.I. Mao, L.R. Charnas, C.E. Jackson, M. Jaye, "Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2," Nature Genetics, 8:275-9, 1994. (Cited in nearly 70 publications through October 1996) Comments by Ethylin Wang Jabs, Johns Hopkins University School of Medicine, Baltimore

Mutations in a group of proteins known as fibroblast growth factor receptors 2 (FGFR2) have been found in patients with Jackson-Weiss syndrome, in which the skull, face, and feet may be deformed, and another similar inherited disorder, Crouzon syndrome. One of the hallmarks of both diseases is craniosynostosis, in which the skull bones fuse prematurely, causing abnormally shaped skulls. The condition occurs in one in 3,000 newborns.


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