Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.

Abstract

We report on a patient with a severe premature calvarial synostosis and epidermal hyperplasia. The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only. Subsequently, molecular analysis of the FGFR3 receptor gene identified a heterozygous P250R missense mutation in both the proposita and her mildly affected father. This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes.

• Authors: T Roscioli, S Flanagan, R J Mortimore, P Kumar, D Weedon, J Masel, R Lewandowski, V Hyland, I A Glass
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 101 Issue 3 Pg. 187-94 (Jul 01 2001) ISSN: 0148-7299 [Print] United States
• PMID: 11424131 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2001 Wiley-Liss, Inc.

Chemical References

• Receptors, Fibroblast Growth Factor
• DNA
• FGFR3 protein, human
• Protein-Tyrosine Kinases
• Receptor, Fibroblast Growth Factor, Type 3

Topics

• Amino Acid Substitution
• Craniosynostoses (genetics, pathology)
• DNA (chemistry, genetics)
• DNA Mutational Analysis
• Female
• Humans
• Hyperplasia
• Infant
• Mutation, Missense
• Protein-Tyrosine Kinases
• Receptor, Fibroblast Growth Factor, Type 3
• Receptors, Fibroblast Growth Factor (genetics)
• Skin (pathology)
• Skin Diseases (genetics, pathology)