[FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient].
OBJECTIVE
To detect the gene mutation of fibroblast growth factor receptor (FGFR2)in a Crouzon syndrome family and a sporadic patient.


METHODS
The genomic DNA from 10 members in the Crouzon syndrome family, as well as a sporadic patient, was extracted. Then exons 8 and 10 of FGFR2 gene and their flanking sequences were amplified by polymerase chain reaction. Some of the family members were studied by only amplifying exon 8. Finally, the PCR products were purified and sequenced.


RESULTS
The G to T transversion mutation (heterozygote) at nucleotide 833 in exon 8 of FGFR2 (C278F), was found both in the patients of the family and the sporadic patient.


CONCLUSIONS
FGFR2 gene mutation is responsible for the pathogenesis of Crouzon syndrome in these patients.
Guo
Lu
L
Department of Endocrinology, Huashan Hospital, Fudan University, Shanghai, 200040 P. R. China.
Lai
Yan-ni
YN
Li
Lian-xi
LX
D000328:Adult; D002648:Child; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
D051497:Receptor, Fibroblast Growth Factor, Type 2