Korean J Pediatr.  2006 May;49(5):519-522. 10.3345/kjp.2006.49.5.519.

Jagged1 mutation analysis in Alagille syndrome patients

• Ko JS
• Yang HR
• Kim KM
• Seo JK

• KMID: 2278564
• DOI: http://doi.org/10.3345/kjp.2006.49.5.519

Abstract

PURPOSE: Alagille syndrome is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged1(JAG1) gene, which encodes a ligand of Notch, has been found mutated in Alagille syndrome. The aim of the study was to investigate the mutation analysis of JAG1 gene in Korean patients with Alagille syndrome.
METHODS
Genomic DNA was extracted from peripheral leukocytes of 6 patients. The 26 exons of JAG1 gene were amplified and PCR products were directly sequenced.
RESULTS
Two novel frameshift mutations were found. 118delC in exon 2 was found in a patient who developed hepatocellular carcinoma at 4 years of age. 999-1000delTG was identified in exon 7.
CONCLUSION
Mutations identified in this study are expected to give rise to truncated proteins.

Keyword

Alagille syndrome; Jagged1; JAG1; Mutation; Hepatocellular carcinoma

MeSH Terms

Alagille Syndrome*
Carcinoma, Hepatocellular
DNA
Exons
Frameshift Mutation
Heart
Humans
Leukocytes
Liver
Polymerase Chain Reaction
Spine
DNA