Alagille syndrome may mimic biliary atresia in early infancy. Since mutations in JAG1 typical for Alagille syndrome type 1 have also been found in biliary atresia, we aimed to identify JAG1 mutations in newborns with proven biliary atresia (n = 72). Five biliary atresia patients with cholestasis, one additional characteristic feature of Alagille syndrome and ambiguous liver histology were single heterozygotes for nonsense or frameshift mutations in JAG1. No mutations were found in the remaining 67 patients. All "biliary atresia" carriers of JAG1 null mutations developed typical Alagille syndrome at the age of three years. Our data do not support association of biliary atresia with JAG1 mutations, at least in Czech patients. Rapid testing for JAG1 mutations could prevent misdiagnosis of Alagille syndrome in early infancy and improve their outcome.

Department of Internal Medicine 2nd Faculty of Medicine Charles University Prague and Motol University Hospital Prague Czech Republic

Department of Paediatric Surgery 2nd Faculty of Medicine Charles University Prague and Motol University Hospital Prague Czech Republic

Department of Paediatrics 2nd Faculty of Medicine Charles University Prague and Motol University Hospital Prague Czech Republic

Laboratory of Experimental Hepatology Institute for Clinical and Experimental Medicine Prague Czech Republic

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Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic