Molecular Insights of CPLANE1 Variants in Prenatal Diagnosis of Joubert Syndrome
Author Information
Author(s): Li Si-Xiu, Chen Leiting, Deng Chen, Tang Dongmei, Zhang Jing, Hu Wen-Guang, Hu Yu, Lai Hua, Yang Xiao
Primary Institution: Chengdu Women’s and Children’s Central Hospital, University of Electronic Science and Technology of China
Hypothesis
Can the identification of CPLANE1 variants improve prenatal diagnosis of Joubert syndrome?
Conclusion
The study suggests that molecular insights into CPLANE1 variants may enhance the interpretation of variants of uncertain significance in prenatal diagnosis.
Supporting Evidence
- The fetus presented with polydactyly and molar tooth sign at 24 weeks of gestation.
- Trio-based WES revealed compound heterozygous CPLANE1 variants potentially associated with Joubert syndrome.
- One variant was classified as pathogenic while the other was classified as a variant of uncertain significance.
Takeaway
Doctors looked at a baby that had some problems before it was born and found some gene changes that might be linked to a rare condition. This helps understand how to diagnose similar cases in the future.
Methodology
Trio-based whole exome sequencing was performed on both parents and the affected fetus to identify genetic variants.
Limitations
The absence of a postmortem examination limited the ability to confirm the specific condition as either OFD VI or JS-OFD.
Participant Demographics
The study involved a couple who underwent in vitro fertilization and their fetus.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website