Refining the genetic diagnostic puzzle: A case report on a Chinese <scp>ARPKD</scp> patient with a reciprocal balanced translocation and c.<scp>2507 T</scp> > C (p.<scp>V836A</scp>) in <scp><i>PKHD1</i></scp>
We identified an infrequent variant combination, c.2507T>C (p.V836A) in PKHD1 and an RBT with broken PKHD1, which extends the genetic spectrum of ARPKD, and provide a basis for further genetic counselling to the family.
Authors
- Yuanyuan Sun (ORCID: https://orcid.org/0000-0001-8671-5522)
- Wenxuan Fan
- Jianbo Shu (ORCID: https://orcid.org/0000-0002-7787-4537)
- Chunquan Cai (ORCID: https://orcid.org/0000-0002-7265-9387)
- Wenchao Sheng
- Nan Liu (ORCID: https://orcid.org/0000-0002-7384-0794)
- Xiaoyu Liu (ORCID: https://orcid.org/0000-0001-6622-9316)
- Dong Li (ORCID: https://orcid.org/0000-0002-8455-4769)
- Shuyue Zhang (ORCID: https://orcid.org/0000-0002-3652-6413)
- Yingzi Cai
Institutions
- Tianjin University (CN)
- Tianjin Centers for Disease Control and Prevention (CN)
- Tianjin Children's Hospital (CN)
- Tianjin Medical University (CN)
Publication Details
- Journal
- Nephrology
- Published
- 2024-10-13
- DOI
- https://doi.org/10.1111/nep.14401
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Tianjin City