Two unrelated Alagille syndrome cases of South Indian origin:Showing multi-exonic deletion and a novel mutation in JAG1 gene  

作　　者：Aswathi N Jincy M.Jose Sreelata B.Nair Prabha S.N Pappachan S 

机构地区：[1]Department of Medical Genetics,Lifeline Super Specialty Hospital,Pathanamthitta,Kerala 691523,India [2]Lifeline Super Specialty Hospital,Pathanamthitta,Kerala 691523,India

出　　处：《Genes & Diseases》2024年第3期66-68,共3页基因与疾病（英文）

摘　　要：Alagille syndrome(ALGS;OMIM#118450)is a highlyvariable,multi-systemic,autosomal dominant disorder,caused by mutations in the Jagged Canonical Notch Ligand 1(JAG1)gene(20p12.2)or in the Neurogenic locus notch homolog protein 2(NOTCH2)gene(1p13).^(1)It primarily affects the liver,heart,eyes,face,kidney,skin,vertebrae,and skeleton.^(1,2)The JAG1 gene has 26 exons and about 90%of the ALGS cases result from pathogenic variants in the JAG1 and around 7%of cases have deletions in chromosome 20 that include this gene.

关 键 词：JAG1 CASES NOTCH 

分 类 号：R394[医药卫生—医学遗传学]