Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature

Ne report on a patient with the skeletal findings of Jackson-Weiss syndrome , who manifests only mild craniofacial anomalies. Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer synd rome Like manifestations. Mutations in the immunoglobulin-like, II-III (IgI I-III) linker region of FGFR1 and FGFR3 molecules may present as a skeletal dysplasia affecting the appendicular skeleton including, brachydactyly, sh ort broad middle phalanges, phalangeal epiphyseal coning and broad halluces , This communication is a further example of the phenomenon of an activated FGFR molecule resulting in overlapping manifestations in FGFR syndromes. A m. J, Med. Genet. 93:22-28, 2000. (C) 2000 Wiley-Liss, Inc.