Balanced Translocation Disrupting JAG1 Identified by Optical Genomic Mapping in Suspected Alagille Syndrome
نویسندگان
چکیده
We report the clinical and genetic features of a Han Chinese boy who presented with disease suspect for Alagille syndrome (ALGS). Multiple analyses (panel sequencing, multiplex-ligation-dependent probe amplification, whole genome sequencing) failed to uncover causative variant. Optical genomic mapping detected reciprocal translocation between chromosomes 4 20, interrupting JAG1. Long-range polymerase chain reaction targeted sequencing identified exact breakpoints. Sanger reanalysis raw data further confirmed result. This is expected generate aberrant JAG1 transcripts that lead complete loss expression. first t(4;20)(q22.1;p12.2) balanced by optical characterized at base-pair resolution in ALGS. Our approach permitted precise diagnosis counseling.
منابع مشابه
Atypical Alagille Syndrome Diagnosed by Genomic Analysis
Citation: Zhang ZZ, Zhu K, Liu Q, Xu H. Atypical Alagille Syndrome Diagnosed by Genomic Analysis. Ann Clin Case Rep. 2017; 2: 1377. ISSN: 2474-1655 Copyright © 2017 Zhang ZZ. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Case Re...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2023
ISSN: ['1059-7794', '1098-1004']
DOI: https://doi.org/10.1155/2023/5396281