Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.
BACKGROUND
Crouzon syndrome is an autosomal dominant disorder causing premature fusion of the cranial suture. Mutations have been reported in exon IIIa or IIIc of the fibroblast growth factor receptor 2 (FGFR2) gene.


METHODS
In the present study, nine unrelated Crouzon syndrome patients were screened for mutations in the two exons of FGFR2 by polymerase chain reaction and direct sequencing.


RESULTS
Mutations were detected in 67% (6/9) of all cases. More than half the studied Crouzon patients carried a mutation resulting in either the loss or gain of a cysteine residue. A novel mutation, Tyr281Cys substitution, was discovered at exon IIIa.


CONCLUSIONS
The mechanisms by which the same genotypes cause different phenotypes for each type of craniosynostosis syndrome in still uncertain. However, the molecular identification of the FGFR gene has made a great impact on the clinical classification of craniosynostosis syndromes; a new classification based on genotypes seems to be unavoidable.
Tsai
F J
FJ
Department of Medical Genetics, China Medical College Hospital, Taichung, Taiwan. d0704@hpd.cmch.org.tw
Yang
C F
CF
Wu
J Y
JY
Tsai
C H
CH
Lee
C C
CC
D044466:Asian People / Q000235:genetics*; D003394:Craniofacial Dysostosis / Q000235:genetics*; D006801:Humans; D009154:Mutation; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013624:Taiwan
D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2