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Crohn-like disease affecting small bowel due to monogenic SLCO2A1 mutations: First cases of Chronic Enteropathy Associated with SLCO2A1 gene (CEAS) in France.

Annick HamonDominique Cazals-HatemCarmen StefanescuMathieu UzzanXavier TretonAlain SauvanetYves PanisMarie MonsinjonFanny BonvaletOlivier CorcosEmilie AzougueneNadine Cerf-BensussanYoram BouhnikFabienne Charbit-Henrion
Published in: Journal of Crohn's & colitis (2022)
CEAS can be detected within the European population and raise the question of its incidence and recognition outside Asia. Presence of intractable recurrent ulcerations of the small intestine mimicking Crohn's disease with concentric stricture should motivate a genetic search for SLCO2A1 mutations, particularly in the context of family history or consanguinity.
Keyphrases
  • small bowel
  • genome wide
  • risk factors
  • transcription factor
  • drug induced
  • genome wide identification