Jackson-weiss and crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

Ethylin Wang Jabs, Xiang Li, Alan F. Scott, Gregory Meyers, Wendy Chen, Michael Eccles, Jen i. Mao, Lawrence R. Charnas, Charles E. Jackson, Michael Jaye

Research output: Contribution to journalArticlepeer-review

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 Illc 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.

Original languageEnglish (US)
Pages (from-to)275-279
Number of pages5
JournalNature genetics
Volume8
Issue number3
DOIs
StatePublished - Nov 1994

ASJC Scopus subject areas

  • Genetics

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