2009 Vienna - European Society of Human Genetics

Molecular basis of Mendelian disorders
tein partner which interestingly shows involvement into apoptosis phenomena
and transcriptional regulating properties as well. These data
provided by our study will provide new and important insights into AIRE
molecular action and regulation.
P12.007
Review of molecular protocol of Alagille syndrome: what’s old,
what’s new, what’s overcome, what’s useful
D. Marchetti, L. Pezzoli, A. R. Lincesso, D. Barachetti, M. Iascone;
Genetica Molecolare - USSD Lab. Genetica Medica, Ospedali Riuniti, Bergamo,
Italy.
Alagille syndrome (AGS) is an autosomal dominant multisystem disorder
involving primarily liver, heart, eyes, face and skeleton. Mutations
in JAG1 are associated with the majority of cases of AGS and
haploinsufficiency is the pathogenic mechanism most involved. At the
beginning, the genetic testing used in AGS was based on point mutation
scanning methods and on FISH to identify JAG1 deletion with a
detection rate of 70% and 5% respectively. Later, on 2006, mutations
in NOTCH2 (