Balanced Translocation Disrupting <i>JAG1</i> Identified by Optical Genomic Mapping in Suspected Alagille Syndrome.

ABSTRACT: We report the clinical and genetic features of a Han Chinese boy who presented with disease suspect for Alagille syndrome (ALGS). Multiple genetic analyses (panel sequencing, multiplex-ligation-dependent probe amplification, and whole genome sequencing) failed to uncover a causative variant. Optical genomic mapping detected a reciprocal translocation between chromosomes 4 and 20, interrupting JAG1. Long-range polymerase chain reaction and targeted sequencing identified the exact breakpoints. Sanger sequencing and reanalysis of genome sequencing raw data further confirmed the result. This translocation is expected to generate aberrant JAG1 transcripts that lead to complete loss of JAG1 expression. This is the first t(4;20)(q22.1;p12.2) balanced translocation detected by

SUBMITTER: Zhang YQ 

PROVIDER: S-EPMC11918711 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature