a deletion of fgfr2 creating a chimeric iiibiiic exon in a child with apert syndrome删除fgfr2创建嵌合iiibiiic外显子在一个孩子爱伯特综合症.pdfVIP

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a deletion of fgfr2 creating a chimeric iiibiiic exon in a child with apert syndrome删除fgfr2创建嵌合iiibiiic外显子在一个孩子爱伯特综合症.pdf

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a deletion of fgfr2 creating a chimeric iiibiiic exon in a child with apert syndrome删除fgfr2创建嵌合iiibiiic外显子在一个孩子爱伯特综合症

Fenwick et al. BMC Medical Genetics 2011, 12:122 /1471-2350/12/122 CASE REPORT Open Access A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome 1 2 2 1* Aimee L Fenwick , Sarah C Bowdin , Regan EM Klatt and Andrew OM Wilkie Abstract Background: Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific alternative splice choice between two exons (IIIb and IIIc), which generates two receptor isoforms (FGFR2b and FGFR2c respectively) with differing repertoires of FGF-binding specificity. Here we describe a unique chimeric IIIb/c exon in a patient with Apert syndrome, generated by a non-allelic homologous recombination event. Case Presentation: We present a child with Apert syndrome in whom routine genetic testing had excluded the FGFR2 missense mutations commonly associated with this disorder. The patient was found to harbour a heterozygous 1372 bp deletion between FGFR2 exons IIIb and IIIc, apparently originating from recombination between 13 bp of identical DNA sequence present in both exons. The rearrangement was not present in the unaffected parents. Conclusions: Based on the known pathogenesis of Apert syndrome, the chimeric FGFR2 protein is predicted to act in a dominant gain-of-function manner. This is likely to result from its expression in mesenchymal tissues, where retention of most of the residues essential for FGFR2b binding activity would result in autocrine activation. This report adds to the repertoire of rare cases of Apert syndrome for which a pathogenesis based on atypical FGFR2 rearrangements can be demonstrated. Background The mechanism underlying the