ArticleBMC medical genetics2011
A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.
Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 citations in OpenAlex.
- Prenatal diagnosis of apert syndrome at 23 weeks: a case report with isolated syndactyly and sacrococcygeal appendage preceding cranial malformation.AME case reports · 2026Article
- Cleft Palate in Apert Syndrome.Journal of developmental biology · 2022Review
- Article
- Structural Genome Variations Related to Craniosynostosis.Molecular syndromology · 2019Review
- FGFR-associated craniosynostosis syndromes and gastrointestinal defects.American journal of medical genetics. Part A · 2016Article
- Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.European journal of human genetics : EJHG · 2015Article
- Mouse models of Apert syndrome.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2012Article
- Research advances in Apert syndrome.Journal of oral biology and craniofacial researchReview
- The Fibroblast Growth Factor signaling pathway.Wiley interdisciplinary reviews. Developmental biologyReview
- Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report.Journal of oral biology and craniofacial researchArticle
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Authors and funding
4 authors at 2 institutions in 2 countries.
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Abstract
backgroundSignalling 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.
conclusionsBased 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.
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