FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 218-220, 2008.
Article
in Chinese
| WPRIM
| ID: wpr-229786
ABSTRACT
<p><b>OBJECTIVE</b>To detect the gene mutation of fibroblast growth factor receptor (FGFR2)in a Crouzon syndrome family and a sporadic patient.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>FGFR2 gene mutation is responsible for the pathogenesis of Crouzon syndrome in these patients.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Polymerase Chain Reaction
/
Craniofacial Dysostosis
/
Receptor, Fibroblast Growth Factor, Type 2
/
Genetics
/
Heterozygote
/
Mutation
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2008
Type:
Article
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