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Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients
Author(s) -
Tsai FuuJen,
Yang ChiFan,
Wu JerYuarn,
Tsai ChangHai,
Lee ChengChun
Publication year - 2001
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1046/j.1442-200x.2001.01392.x
Subject(s) - medicine , mutation , crouzon syndrome , identification (biology) , mutation testing , genetics , surgery , craniosynostosis , gene , biology , botany
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.