Document Detail

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
MedLine Citation:
PMID:  19066959     Owner:  NLM     Status:  MEDLINE    
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.
Maria Piccione; Vincenzo Antona; Marcello Niceta; Carmelo Fabiano; Manuela Martines; Alberto Bianchi; Giovanni Corsello
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-12-06
Journal Detail:
Title:  European journal of pediatrics     Volume:  168     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-07-24     Completed Date:  2010-02-01     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1135-9     Citation Subset:  IM    
Dipartimento Materno Infantile, Università di Palermo, via Cardinale Rampolla 1, Palermo 90142, Italy.
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MeSH Terms
Acrocephalosyndactylia / diagnosis,  genetics*
Craniofacial Dysostosis / diagnosis,  genetics
Exons / genetics
Point Mutation / genetics
Receptor, Fibroblast Growth Factor, Type 2 / genetics*
Reg. No./Substance:
EC protein, human; EC, Fibroblast Growth Factor, Type 2

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