Title: Parental mosaicism of JAG1 mutations in families with Alagille syndrome
Authors: Giannakudis, J ×
Röpke, A
Kujat, A
Krajewska-Walasek, M
Hughes, H
Fryns, Jean-Pierre
Bankier, A
Amor, D
Schlicker, M
Hansmann, I #
Issue Date: Mar-2001
Series Title: European journal of human genetics : EJHG vol:9 issue:3 pages:209-16
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.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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