A novel splicing variant in NBAS identified by minigene assay causes infantile liver failure syndrome type 2
We report a novel pathogenic splicing variant in <i>NBAS</i> that causes ILFS2 in compound heterozygosity. This finding underscores the importance of integrating genomic sequencing with functional validation for accurate diagnosis and genetic counseling.
Authors
- Fuliang Xie (ORCID: https://orcid.org/0009-0002-3659-7294)
- Jinghui Jiang (ORCID: https://orcid.org/0000-0001-8154-7435)
- Anna Hu (ORCID: https://orcid.org/0000-0001-6818-7041)
- Hongbo Liu (ORCID: https://orcid.org/0000-0003-2061-1450)
- Jun Liang (ORCID: https://orcid.org/0000-0001-5318-4323)
- Xin Zhou (ORCID: https://orcid.org/0000-0002-1820-4445)
- Xiaojia Zhang
Institutions
- Liaocheng People's Hospital (CN)
- Qilu Hospital of Shandong University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-10-08
- DOI
- https://doi.org/10.3389/fgene.2025.1687266
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00