Journal article

FGF10 and the Mystery of Duodenal Atresia in Humans

Warwick J Teague, Matthew LM Jones, Leanne Hawkey, Ian M Smyth, Angelique Catubig, Sebastian K King, Gulcan Sarila, Ruili Li, John M Hutson



Background: Duodenal atresia (DA) is a congenital obstruction of the duodenum, which affects 1 in 7000 pregnancies and requires major surgery in the 1st days of life. Three morphological DA types are described. In humans, the association between DA and Down syndrome suggests an underlying, albeit elusive, genetic etiology. In mice, interruption of fibroblast growth factor 10 (Fgf10) gene signaling results in DA in 30-50% of embryos, supporting a genetic etiology. This study aims to validate the spectrum of DA in two novel strains of Fgf10 knock-out mice, in preparation for future and translational research. Methods: Two novel CRISPR Fgf10 knock-out mouse strains were derived and embryos gene..

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Funding Acknowledgements

This work was supported by a Royal Australasian College of Surgeons (RACS) Foundation in Surgery Small Project Grant, and an Australian New Zealand Association of Paediatric Surgeons (ANZAPS) Douglas Stephens Research Grant. In addition, Associate Professor WT and Associate Professor SK are both generously supported by The Royal Children's Hospital Foundation. APN was supported by the Australian Government Department of Education through the National Collaborative Research Infrastructure Strategy (NCRIS) Program.