A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testin...

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Detalles Bibliográficos
Autores principales: Lee, Min Young, Jeon, Ga Won, Jung, Ji Mi, Sin, Jong Beom
Formato: Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004491/
https://www.ncbi.nlm.nih.gov/pubmed/21189955
http://dx.doi.org/10.3345/kjp.2010.53.7.774
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author Lee, Min Young
Jeon, Ga Won
Jung, Ji Mi
Sin, Jong Beom
author_facet Lee, Min Young
Jeon, Ga Won
Jung, Ji Mi
Sin, Jong Beom
author_sort Lee, Min Young
collection PubMed
description Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome. Here, we describe a case of Pfeiffer syndrome with a novel c833_834GC>TG mutation (encoding Cys278Leu) in the FGFR2 gene associated with a coccygeal anomaly, which is rare in Pfeiffer syndrome.
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spelling pubmed-30044912010-12-28 A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene Lee, Min Young Jeon, Ga Won Jung, Ji Mi Sin, Jong Beom Korean J Pediatr Case Report Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome. Here, we describe a case of Pfeiffer syndrome with a novel c833_834GC>TG mutation (encoding Cys278Leu) in the FGFR2 gene associated with a coccygeal anomaly, which is rare in Pfeiffer syndrome. The Korean Pediatric Society 2010-07 2010-07-31 /pmc/articles/PMC3004491/ /pubmed/21189955 http://dx.doi.org/10.3345/kjp.2010.53.7.774 Text en Copyright © 2010 by The Korean Pediatric Society http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Lee, Min Young
Jeon, Ga Won
Jung, Ji Mi
Sin, Jong Beom
A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
title A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
title_full A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
title_fullStr A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
title_full_unstemmed A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
title_short A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
title_sort case of pfeiffer syndrome with c833_834gc>tg (cys278leu) mutation in the fgfr2 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004491/
https://www.ncbi.nlm.nih.gov/pubmed/21189955
http://dx.doi.org/10.3345/kjp.2010.53.7.774
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