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Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.
- Source :
-
Pediatrics International . Jun2001, Vol. 43 Issue 3, p263-266. 4p. - Publication Year :
- 2001
-
Abstract
- Abstract 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. [ABSTRACT FROM AUTHOR]
- Subjects :
- *CRANIOFACIAL dysostosis
*GENETIC mutation
*FIBROBLAST growth factors
Subjects
Details
- Language :
- English
- ISSN :
- 13288067
- Volume :
- 43
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- Pediatrics International
- Publication Type :
- Academic Journal
- Accession number :
- 6007684
- Full Text :
- https://doi.org/10.1046/j.1442-200X.2001.01392.x