Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.

Details

Serval ID
serval:BIB_6BDD7112100A
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.
Journal
American journal of medical genetics. Part A
Author(s)
Zankl A., Jaeger G., Bonafé L., Boltshauser E., Superti-Furga A.
ISSN
1552-4825
Publication state
Published
Issued date
2004
Peer-reviewed
Oui
Volume
131
Number
3
Pages
299-300
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Abstract
Mutations in the fibroblast growth factor receptor 2 (FGFR2) cause a variety of craniosynostosis syndromes. The mutational spectrum tends to be narrow with the majority of mutations occurring in either exon IIIa or IIIc or in the intronic sequence preceding exon IIIc. Mutations outside of this hotspot are uncommon and the few identified mutations have demonstrated wide clinical variability, making it difficult to establish a clear-cut genotype-phenotype correlation. To better delineate the clinical picture associated with these unusual mutations, we describe a severely affected patient with Pfeiffer syndrome and a missense mutation in the tyrosine kinase (TK) domain of FGFR2.
Keywords
Acrocephalosyndactylia, Base Sequence, DNA Primers, Genotype, Humans, Infant, Newborn, Mutation, Phenotype, Receptor Protein-Tyrosine Kinases, Receptor, Fibroblast Growth Factor, Type 2, Receptors, Fibroblast Growth Factor
Pubmed
Web of science
Create date
21/01/2008 12:50
Last modification date
20/08/2019 14:26
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