Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.
An identical amino acid substitution in fibroblast growth factor receptors (FGFR) 1, 2 and 3 occurs in patients with different craniosynostosis syndromes. We tested 113 patients with various craniosynostosis syndromes for the analogous Pro246Arg mutation in FGFR4 by a PCR-restriction enzyme assay. None of the patients displayed this change nor other mutations in the conserved linker region, as test by SSCP analysis. Mutations in this domain of FGFR4 are unlikely to contribute significantly to craniosynostosis in humans.
Gaudenz
K
K
Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, University of Pennsylvania School of Medicine, Pennsylvania 19104-4399, USA.
Roessler
E
E
Vainikka
S
S
Alitalo
K
K
Muenke
M
M
D000168:Acrocephalosyndactylia / Q000235:genetics; D001120:Arginine; D001483:Base Sequence; D002648:Child; D003398:Craniosynostoses / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific; D005820:Genetic Testing; D006801:Humans; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011392:Proline; D011505:Protein-Tyrosine Kinases; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2; D051498:Receptor, Fibroblast Growth Factor, Type 3; D051499:Receptor, Fibroblast Growth Factor, Type 4; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
D017468:Receptors, Fibroblast Growth Factor; D001120:Arginine; D011392:Proline; C496348:FGFR1 protein, human; C496353:FGFR2 protein, human; C496365:FGFR3 protein, human; C496371:FGFR4 protein, human; D011505:Protein-Tyrosine Kinases; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2; D051498:Receptor, Fibroblast Growth Factor, Type 3; D051499:Receptor, Fibroblast Growth Factor, Type 4; C051612:endodeoxyribonuclease BanI; D015252:Deoxyribonucleases, Type II Site-Specific