Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome

• Published in: Frontiers in genetics Vol. 10; p. 1363
• Main Authors: Chen, Yiyao, Liu, Xueli, Chen, Songchang, Zhang, Junyu, Xu, Chenming
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 24.01.2020
• Subjects: Alagille syndrome; Genetics; JAG1; prenatal diagnosis; RNA assay; targeted sequencing; targeted sequencing; RNA assay; JAG1; prenatal diagnosis; Alagille syndrome

Alagille syndrome (ALGS), as known as congenital arteriohepatic dysplasia, is a rare autosomal dominant multi-systemic disorder. Mutations in or more rarely have been reported as the cause of ALGS. In this study, a 5-year old girl with typical ALGS feature and her pregnant mother came to our reprodu...