Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report
The expression patterns of CPLANE1 and the molecular effects of the variants may provide further evidence supporting the potential for prenatal diagnosis of Joubert syndrome in the case of biallelic VUS and pathogenic variant. This study suggests that molecular insights may play a role in interpreting VUS in clinically relevant prenatal genes for prenatal diagnosis.
Authors
- Leiting Chen
- Hua Lai (ORCID: https://orcid.org/0000-0002-2784-2158)
- Dongmei Tang
- Wen-Guang Hu (ORCID: https://orcid.org/0000-0002-5620-7655)
- Deng Chen (ORCID: https://orcid.org/0000-0002-0969-4382)
- Jing Zhang (ORCID: https://orcid.org/0000-0002-7120-9827)
- Yu Hu (ORCID: https://orcid.org/0000-0002-9599-5885)
- Sixiu Li (ORCID: https://orcid.org/0000-0002-3373-2975)
- Xiao Yang (ORCID: https://orcid.org/0000-0002-3244-1076)
Institutions
- University of Electronic Science and Technology of China (CN)
- Chengdu Women's and Children's Central Hospital (CN)
Publication Details
- Journal
- BMC Pregnancy and Childbirth
- Published
- 2024-12-26
- DOI
- https://doi.org/10.1186/s12884-024-07052-3
- Citations
- 1
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- Chengdu Science and Technology Bureau
- Sichuan Province Science and Technology Support Program