| Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. | |
MedLine Citation:
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PMID: 19066959 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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:
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Maria Piccione; Vincenzo Antona; Marcello Niceta; Carmelo Fabiano; Manuela Martines; Alberto Bianchi; Giovanni Corsello |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-12-06 |
Journal Detail:
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Title: European journal of pediatrics Volume: 168 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-07-24 Completed Date: 2010-02-01 Revised Date: 2012-06-05 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 1135-9 Citation Subset: IM |
Affiliation:
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Dipartimento Materno Infantile, Università di Palermo, via Cardinale Rampolla 1, Palermo 90142, Italy. piccionemaria@libero.it |
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| MeSH Terms | |
Descriptor/Qualifier:
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Acrocephalosyndactylia
/
diagnosis,
genetics* Craniofacial Dysostosis / diagnosis, genetics Exons / genetics Female Humans Infant Male Phenotype Point Mutation / genetics Receptor, Fibroblast Growth Factor, Type 2 / genetics* |
| Chemical | |
Reg. No./Substance:
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EC 2.7.10.1/FGFR2 protein, human; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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