Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.

Giovanni Corsello, Maria Piccione, Marcello Niceta, Alberto Bianchi, Carmelo Fabiano

Risultato della ricerca: Article

11 Citazioni (Scopus)

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
Lingua originaleEnglish
pagine (da-a)1135-1139
Numero di pagine5
RivistaEuropean Journal of Pediatrics
Volume168
Stato di pubblicazionePublished - 2008

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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