Differential expression of fibroblast growth factor receptors in human digital development suggests common pathogenesis in complex acrosyndactyly and craniosynostosis

Plastic and Reconstructive Surgery
Jonathan A BrittoB M Jones

Abstract

The Apert hand is characterized by metaphyseal fusions of the metacarpals and distal phalanges, symphalangism, and soft-tissue syndactyly. More subtle skeletal anomalies of the limb characterize Pfeiffer and Crouzon syndromes. Different mutations in the fibroblast growth factor receptor 2 (FGFR2) gene cause these syndromes, and offer the opportunity to relate genotype to phenotype. The expression of FGFR1 and of the Bek and KGFR isoforms of FGFR2 has, therefore, been studied in human hand development at 12 weeks by in situ hybridization. FGFRs are differentially expressed in the mesenchyme and skeletal elements during endochondral ossification of the developing human hand. KGFR expression characterizes the metaphyseal periosteum and interphalangeal joints. FGFR1 is preferentially expressed in the diaphyses, whereas FGFR2-Bek expression characterizes metaphyseal and diaphyseal elements, and the interdigital mesenchyme. Apert metaphyseal synostosis and symphalangism reflect KGFR expression, which has independently been quantitatively related ex vivo to the severity of clinical digital presentations in these syndromes. Studies in avian development implicate FGF signaling in preventing interdigital apoptosis and maintaining the int...Continue Reading

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Citations

Mar 6, 2003·Plastic and Reconstructive Surgery·Brian R GastmanErnest K Manders
Nov 22, 2005·The British Journal of Ophthalmology·S H KhanK K Nischal
Dec 8, 2010·The Journal of Hand Surgery·Kerby C ObergMichael A Tonkin
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Jun 13, 2018·Chinese Medical Journal·Bing Meng, Hui Zhang
Apr 13, 2019·Molecular Syndromology·Justine O'HaraDavid J Dunaway

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