Premium
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome
Author(s) -
Zankl Andreas,
Jaeger Gudrun,
Bonafé Luisa,
Boltshauser Eugen,
SupertiFurga Andrea
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30366
Subject(s) - missense mutation , exon , genetics , mutation , protein kinase domain , biology , phenotype , tyrosine kinase , craniosynostosis , fibroblast growth factor receptor 2 , fibroblast growth factor receptor , point mutation , cancer research , gene , fibroblast growth factor , receptor , mutant
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. © 2004 Wiley‐Liss, Inc.