title: Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
abstract: When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with proptosis, and midface hypoplasia. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3 cause craniosynostosis. We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. This is a mutation not previously described in the Pfeiffer syndrome but reported in the Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In this paper, we propose the concept that these disorders may represent one genetic condition with phenotypic variability.
authors.affiliation: Dipartimento Materno Infantile, Università di Palermo, via Cardinale Rampolla 1, Palermo 90142, Italy. piccionemaria@libero.it
authors.forename: Maria
authors.initials: M
authors.lastname: Piccione
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Antona
authors.forename: Marcello
authors.initials: M
authors.lastname: Niceta
authors.forename: Carmelo
authors.initials: C
authors.lastname: Fabiano
authors.forename: Manuela
authors.initials: M
authors.lastname: Martines
authors.forename: Alberto
authors.initials: A
authors.lastname: Bianchi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis / Q000235:genetics*; D003394:Craniofacial Dysostosis / Q000175:diagnosis / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2