Prenatal diagnosis and molecular characterization of PKHD1 variants in two Chinese fetuses with Caroli disease/syndrome
We reported the first prenatally diagnosed CD/CS cases with genetic analysis in the Chinese population, and experimentally validated the pathogenicity of the recurrent splice site variant c.3364 + 3A>T by a minigene assay. Our findings broaden the <i>PKHD1</i> variation spectrum in these rare cases and recommend including prenatal cases to refine the reported genotype-phenotype correlations. We also emphasize the need of WES in probands with CD or CS for early molecular diagnosis in subsequent pregnancies.
Authors
- Peiwen Chen (ORCID: https://orcid.org/0000-0002-8129-9328)
- Shengbao Pan
- Dan Wang (ORCID: https://orcid.org/0000-0003-1287-404X)
- Fang Liu (ORCID: https://orcid.org/0000-0002-8325-1213)
- Hui Huang (ORCID: https://orcid.org/0000-0002-4741-4361)
- Xinlin Chen (ORCID: https://orcid.org/0000-0001-6871-7524)
- Sheng Zhao
Institutions
- Hubei Provincial Women and Children's Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-09-29
- DOI
- https://doi.org/10.3389/fgene.2025.1651306
- Citations
- 1
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Health Commission of Hubei Province
- National Key Research and Development Program of China