Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variant at splicing site and exon 1 deletion
This study reported the rare case of CS caused by the c.1041G > A synonymous variation causing exon 10 deletion by affecting splicing and large fragment deletion containing exon 1 by preventing its allele from initiating transcription, expanding the variation spectrum of the ERCC8 gene. It reminds us that although synonymous variations are rare, they may affect splicing when they occur at the junction of exons and introns.
Authors
- Zhenkun Zhang (ORCID: https://orcid.org/0000-0002-3480-2381)
- Jun Su (ORCID: https://orcid.org/0000-0002-4524-7168)
- Mingwei Guo (ORCID: https://orcid.org/0000-0001-8081-6912)
- Zhenhua Xie
- Dongxiao Li (ORCID: https://orcid.org/0000-0002-9209-3253)
- Xiaofan Bie
- Liu L (ORCID: https://orcid.org/0000-0001-9234-457X)
- Lei Liu (ORCID: https://orcid.org/0000-0002-3570-2219)
- Yaodong Zhang (ORCID: https://orcid.org/0000-0002-6919-4291)
Institutions
- Zhengzhou Children's Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-26
- DOI
- https://doi.org/10.1186/s13023-025-03808-y
- Primary Topic
- DNA Repair Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China