Authors: FuBang Li Jie Chen JinDan Yu Hui Gao Ming Qi
Publish Date: 2010/08/13
Volume: 6, Issue: 3, Pages: 278-280
Abstract
A 28monthold Chinese girl with congenital heart disease and jaundice was diagnosed with Alagille syndrome by liver biopsy showing a paucity of the intrahepatic bile ducts Variants of the JAG1 gene were detected by DNA sequencing in the patient and her unaffected fatherA heterozygous missense mutation was identified in exon 2 of the JAG1 gene in the proband but not in exon 2 4 6 9 17 23 24 by DNA sequencing in her father The mutation G→T change was seen at position 133 in the cDNA sequence c133 G→T causing a substitution of a leucine for a valine V45L residue in the N terminus between signal peptide and DSL domain of the Notch ligand This mutation however was absent in her father
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