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Human knockouts of PLA2G4A phenocopy NSAID-induced gastrointestinal and renal toxicity
  1. Sateesh Maddirevula1,
  2. Mohammed Abanemai2,
  3. Fowzan S Alkuraya1,3
  1. 1Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
  2. 2Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
  3. 3Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
  1. Correspondence to Dr Fowzan S Alkuraya, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; falkuraya{at}kfshrc.edu.sa, alkuraya{at}outlook.com

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We read with great interest the study by Brooke and colleagues, in which they revealed that a severe hereditary form of peptic ulcer disease known as ‘cryptogenic multifocal ulcerating stenosing enteritis’ is caused by homozygosity for a truncating mutation in PLA2G4A, causing complete loss of cytosolic phospholipase A2-α (cPLA(2)α).1 We describe below a family with a different truncating mutation to further delineate the PLA2G4A-related phenotype.

The family consists of healthy first cousin parents and 8-year-old triplets, two of whom had been treated for severe peptic ulcer disease since they were 2 years of age. The initial presentation was in the form of abdominal pain, anaemia and blood in stools, and multiple gastric and duodenal ulcers were diagnosed by endoscopy at …

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