Jagged1 mutation analysis in Alagille syndrome patients / 소아과

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.