RGD Reference Report - Fibroblast growth factor receptor 2 IIIb invalidation--a potential cause of familial duodenal atresia. - Rat Genome Database

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Fibroblast growth factor receptor 2 IIIb invalidation--a potential cause of familial duodenal atresia.

Authors: Fairbanks, Timothy J  Kanard, Robert  Del Moral, Pierre M  Sala, Frederic G  De Langhe, Stijn  Warburton, David  Anderson, Kathryn D  Bellusci, Saverio  Burns, R Cartland 
Citation: Fairbanks TJ, etal., J Pediatr Surg. 2004 Jun;39(6):872-4.
RGD ID: 12801491
Pubmed: PMID:15185216   (View Abstract at PubMed)


BACKGROUND/PURPOSE: Duodenal atresia (DA) occurs in 1 in every 6,000 live births and represents a significant surgically correctable cause of intestinal obstruction in the neonate. Familial or congenital DA has been reported, implying that at least some cases of DA are the result of genetic, heritable abnormalities. The genes controlling duodenal development are incompletely understood. Fibroblast growth factor receptor 2IIIb (Fgfr2b) is known to play a critical role in the development of multiple organ systems including other gastrointestinal tract (GIT) structures. This study shows the key role of Fgfr2b in normal duodenal development and the pathogenesis of DA.
METHODS: Wild type (Wt) and Fgfr2b-/- embryos were harvested from timed pregnant mothers at stage E18.5 and were analyzed for duodenal phenotype.
RESULTS: Inactivation of Fgfr2b results in DA. DA is present in the Fgf2b-/- mutants with a 35% penetrance. The duodenal phenotype of the Fgf2b-/- mutants ranges from normal to a mucosal web, type I, and type III atresia.
CONCLUSIONS: Fgfr2b is a critical regulatory gene in the development of the duodenum. Fgfr2b invalidation (Fgfr2b-/- mutant) results in a reproducible, autosomal recessive duodenal atresia phenotype with incomplete penetrance and a variable phenotype.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
duodenal atresia  ISOFgfr2 (Mus musculus)12801491; 12801491 RGD 
duodenal atresia  IMP 12801491 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fgfr2  (fibroblast growth factor receptor 2)

Genes (Mus musculus)
Fgfr2  (fibroblast growth factor receptor 2)

Genes (Homo sapiens)
FGFR2  (fibroblast growth factor receptor 2)


Additional Information