title: Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation.
abstract: We report the case of a patient with tetralogy of Fallot with absent pulmonary valve and familial Alagille syndrome who successfully underwent cardiac repair. The patient's sister had liver and congenital heart disease. The father had undergone liver transplantation but showed no significant cardiac abnormalities. A yet-unknown mutation of the JAG1 gene was discovered in this family with variable expression of Alagille syndrome.
authors.affiliation: 1Department of Pediatric and Congenital Cardiology,University Hospital Heidelberg,Heidelberg,Germany.
authors.forename: Victoria C
authors.initials: VC
authors.lastname: Ziesenitz
authors.affiliation: 2Department of Cardiac Surgery,University Hospital Heidelberg,Heidelberg,Germany.
authors.forename: Tsvetomir
authors.initials: T
authors.lastname: Loukanov
authors.affiliation: 3Institute of Human Genetics,Halle,Germany.
authors.forename: Christiane
authors.initials: C
authors.lastname: Gläser
authors.affiliation: 1Department of Pediatric and Congenital Cardiology,University Hospital Heidelberg,Heidelberg,Germany.
authors.forename: Matthias
authors.initials: M
authors.lastname: Gorenflo
mesh_terms: D016738:Alagille Syndrome / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002648:Child; D005260:Female; D006330:Heart Defects, Congenital; 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; D010641:Phenotype; D000072099:Serrate-Jagged Proteins; D055815:Young Adult
chemical_list: D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D000072099:Serrate-Jagged Proteins
keywords: Alagille syndrome; JAG1; Notch signalling; absent pulmonary valve; tetralogy of Fallot