title: Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.
abstract: 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.
authors.affiliation: Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: Tomáš
authors.initials: T
authors.lastname: Dědič
authors.affiliation: Laboratory of Experimental Hepatology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
authors.forename: Milan
authors.initials: M
authors.lastname: Jirsa
authors.affiliation: Department of Internal Medicine, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: Radan
authors.initials: R
authors.lastname: Keil
authors.affiliation: Department of Paediatric Surgery, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: Michal
authors.initials: M
authors.lastname: Rygl
authors.affiliation: Department of Paediatric Surgery, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: Jiri
authors.initials: J
authors.lastname: Šnajdauf
authors.affiliation: Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: Radana
authors.initials: R
authors.lastname: Kotalová
mesh_terms: D016738:Alagille Syndrome / Q000175:diagnosis* / Q000235:genetics*; D001656:Biliary Atresia / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D018389:Codon, Nonsense; D018153:Czech Republic; D003937:Diagnosis, Differential; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007231:Infant, Newborn; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D000072100:Jagged-1 Protein; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D000072099:Serrate-Jagged Proteins
chemical_list: D002135:Calcium-Binding Proteins; D018389:Codon, Nonsense; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D000072099:Serrate-Jagged Proteins