Open AccessCraniosynostosis in Alagille syndrome
Author(s) -
Kamath Binita M.,
Stolle Catherine,
Bason Lynn,
Colliton Raymond P.,
Piccoli David A.,
Spinner Nancy B.,
Krantz Ian D.
Publication year - 2002
Publication title -
american journal of medical genetics
Language(s) - English
Resource type - Journals
eISSN - 1096-8628
pISSN - 0148-7299
DOI - 10.1002/ajmg.10608
Subject(s) - alagille syndrome , craniosynostosis , biology , mutation , genetics , notch signaling pathway , gene , endocrinology , cholestasis
Alagille syndrome is a multisystem developmental disorder with primary involvement of the liver, heart, skeleton, eyes and facial structures, and demonstrates highly variable expressivity with respect to all of the involved systems. Alagille syndrome is caused by mutations in the Jagged1 gene. Jagged1 is a ligand in the Notch signaling pathway that has been shown to regulate early cell fate determination. Mutations in Jagged1 have been identified in approximately 80% of patients with Alagille syndrome. We have recently identified two patients with mutation proven Alagille syndrome who also had unilateral coronal craniosynostosis. Both individuals were screened for mutations in fibroblast growth factor receptor 1, 2, 3 and TWIST genes, all associated with various types of craniosynostosis and no mutations were identified. The finding of a conserved form of craniosynostosis in two unrelated patients with Alagille syndrome and mutations in Jagged1 may indicate that Jagged1 plays a role in cranial suture formation. © 2002 Wiley‐Liss, Inc.