A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome
Our study identifies (GRCh38:17:g.36934029_37729559inv) in HNF1B as a pathogenic variant underlying RCAD through gene disruption, expanding its known pathogenic variant spectrum. It highlights the value of whole-genome sequencing in detecting complex structural variants and provides crucial evidence for genetic counseling.
Authors
- Yanke Zhu
- Qiu Wang (ORCID: https://orcid.org/0000-0003-1635-8050)
- Ruiting Wu
- Chuangjie Gu
- Dan Wang
- Lijie Guan
- Tiantian Jiang
- Danping Wang
- Yue Wang
Institutions
- Wenzhou Medical University (CN)
- First Affiliated Hospital of Wenzhou Medical University (CN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2026-02-17
- DOI
- https://doi.org/10.1186/s12920-026-02325-6
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 0.00