title: The cardiovascular manifestations of Alagille syndrome and JAGI mutations.
abstract: Alagille syndrome is an autosomal-dominant disorder characterized by hepatic, cardiac, ocular, skeletal, and facial abnormalities. The disease gene, Jaggedl (JAG]), was identified by molecular analyses of chromosomal alterations involving chromosome 20p. Total gene deletions (3-7%) and intragenic mutations (70%) of JAG] have been identified in Alagille patients. Identifying JAG] mutations is challenging, given its size of 26 exons. Methods to identify both whole-gene deletions and intragenic mutations of JAG] are described in detail, including fluorescence in situ hybridization (FISH), conformation-sensitive gel electrophoresis (CSGE), and complementary DNA (cDNA) sequencing.
authors.affiliation: The Division of Cardiology, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Goldmuntz
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Moore
authors.forename: Nancy B
authors.initials: NB
authors.lastname: Spinner
mesh_terms: D016738:Alagille Syndrome / Q000235:genetics* / Q000503:physiopathology*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002319:Cardiovascular System / Q000503:physiopathology*; D004252:DNA Mutational Analysis / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D008677:Metaphase; D009154:Mutation / Q000235:genetics*; D009690:Nucleic Acid Conformation; D000072099:Serrate-Jagged Proteins
chemical_list: D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D000072099:Serrate-Jagged Proteins