A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis.
A unique Pro250Arg mutation in fibroblast growth factor receptor 3 (FGFR3) was recently found in patients with non-syndromic craniosynostosis. We studied 18 Taiwan Chinese patients with various types of craniosynostosis to evaluate if this mutation is also prevalent in the Chinese population. Genomic DNA was analysed by polymerase chain reaction based restriction analysis and direct sequencing to identify the Pro250Arg mutation in FGFR3. Five (28%) of 18 probands were heterozygous for the Pro250Arg mutation. Only those patients with coronal synostosis carried this mutation.


CONCLUSIONS
Our findings suggest that all patients with coronal synostosis should be examined for this unique mutation.
Tsai
F J
FJ
Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan. d0704@hpd.cmch.org.tw
Wu
J Y
JY
Lee
C C
CC
Tsa
C H
CH
D002681:China / Q000208:ethnology; D003398:Craniosynostoses / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013624:Taiwan / Q000453:epidemiology
D017468:Receptors, Fibroblast Growth Factor