title: Parental mosaicism of JAG1 mutations in families with Alagille syndrome.
abstract: The Alagille syndrome (AGS), a congenital disorder affecting liver, heart, skeleton and eye in association with a typical face, is an autosomal dominant disease with nearly complete penetrance and variable expression. AGS is caused by mutations in the developmentally important JAG1 gene. In our mutation screening, where 61 mutations in JAG1 were detected, we identified five cases where mosaicism is present. Our results point to a significant frequency of mosaicism for JAG1 mutations in AGS of more than 8.2%. Because mosaicism may be associated with a very mild phenotype, the appropriate diagnosis of AGS and consequently the determination of the recurrence risk can be complicated.
authors: Institut für Humangenetik und Medizinische Biologie, University Halle-Wittenberg, Halle, Germany. joannis.giannakudis@medizin.uni-halle.de
authors: J
authors: J
authors: Giannakudis
authors: A
authors: A
authors: Röpke
authors: A
authors: A
authors: Kujat
authors: M
authors: M
authors: Krajewska-Walasek
authors: H
authors: H
authors: Hughes
authors: J P
authors: JP
authors: Fryns
authors: A
authors: A
authors: Bankier
authors: D
authors: D
authors: Amor
authors: M
authors: M
authors: Schlicker
authors: I
authors: I
authors: Hansmann
mesh_terms: D016738:Alagille Syndrome / Q000235:genetics*; D001483:Base Sequence; D002135:Calcium-Binding Proteins; D017931:DNA Primers; D005260:Female; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D000072100:Jagged-1 Protein; D008297:Male; D008565:Membrane Proteins; D009030:Mosaicism; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D000072099:Serrate-Jagged Proteins
chemical_list: D002135:Calcium-Binding Proteins; D017931:DNA Primers; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D011506:Proteins; D000072099:Serrate-Jagged Proteins