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© 1995 Oxford University Press

RESEARCH-ARTICLE

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

Ute Schell1, Andreas Hehr1, George J. Feldman1, Nathaniel H. Robin1, Elaine H. Zackai1, Christine de Die-Smulders4, David H. Viskochil5, Janet M. Stewart6, Gerhard Wolff7, Hirofumi Ohashi8, R. Arlen Price2,3, M.Michael Cohen, Jr.9 and Maximilian Muenke1,2,*

1Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, and Departments of Pediatrics Philadelphia, Pennsylvania 19104–4399, USA 2Departments of Genetics, University of Pennsylvania School of Medicine Philadelphia, Pennsylvania 19104–4399, USA 3Departments of Psychiatry, University of Pennsylvania School of Medicine Philadelphia, Pennsylvania 19104–4399, USA 4Department of Clinical Genetics, Academical Hospital Maastricht Maastricht, The Netherlands 5Department of Pediatrics, Division of Medical Genetics, University of Utah Salt Lake City, Utah 84112 6Children's Hospital Division of Genetics Denver, Colorado 80218, USA 7Institut für Humangenetik der Universität Freiburg Freiburg, Germany 8Division of Medical Genetics, Saitama Children's Medical Center Saitama, Japan 9Department of Oral Biology, Faculty of Dentistry, and Department of Pediatrics, Faculty of Medicine, Dalhousie University Halifax Nova Scotia B3H 3J5, Canada

*To whom correspondence should be addressed at: The Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, Philadelphia, Pennsylvania, 19104–4399, USA

Received January 24, 1995; Revised January 24, 1995; Accepted January 24, 1995

Pfeifter syndrome (PS) is an autosomal dominant skeletal disorder which affects the bones of the skull, hands and feet. Previously, we have mapped PS in a subset of families to chromosome 8cen by linkage analysis and demonstrated a common mutation in the fibroblast growth factor receptor-1 (FGFR1) gene in the linked families. Here we report a second locus for PS on chromosome 10q25, and present evidence that mutations in the fibroblast growth factor receptor-2 (FGFR2) gene on 10q25 cause PS in an additional subset of familial and sporadic cases. Three different point mutations in FGFR2, which alter the same acceptor splice site of exon B, were observed in both sporadic and familial PS. In addition, a T to C transition in exon B predicting a cysteine to arginine substitution was identified in three sporadic PS individuals. Interestingly, this T to C change is identical to a mutation in FGFR2 previously reported in Crouzon syndrome, a phenotypically similar disorder but one lacking the hand and foot anomalies seen in PS. Our results highlight the genetic heterogeneity in PS and suggest that the molecular data will be an important complement to the clinical phenotype in defining craniosynostosis syndromes.


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