Abstract
Alagille syndrome (AGS) is a congenital anomaly syndrome that affects liver, heart, pulmonary artery, eyes, face, and skeleton. Recently, mutations of the JAG1 gene, which encodes a ligand for the Notch receptor, have been identified in AGS patients. We investigated the JAG1 gene for genetic alterations in eight Japanese AGS patients, using fluorescence in situ hybridization (FISH), single strand conformation polymorphism (SSCP) analysis, and direct sequencing. Subtle genetic alterations were identified in six of the eight patients, including three frameshift mutations, two splice donor mutations, and one nonsense mutation. All alleles with identified mutations can be expected to produce non-functional truncated proteins without a transmembrane domain. There was no apparent correlation between the genotypes of the patients and their affected organs, although the phenotypes of the patients with mutations at the splice donor site were found to be less severe.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Additional information
Received: February 9, 1999 / Accepted: March 26, 1999
Rights and permissions
About this article
Cite this article
Onouchi, Y., Kurahashi, H., Tajiri, H. et al. Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome. J Hum Genet 44, 235–239 (1999). https://doi.org/10.1007/s100380050150
Issue Date:
DOI: https://doi.org/10.1007/s100380050150
This article is cited by
-
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome
Journal of Applied Genetics (2014)