Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with developmental delay
OGM technology can identify complex chromosomal rearrangements that cannot be detected by conventional methods and provides molecular evidence for the familial pattern of disease. Combined with functional pathway enrichment analysis, the study proposes that disruption of the "complement-neurodevelopmental axis" may be the main cause of the proband's neurodevelopmental disorder. These findings offer family-level evidence supporting the clinical application of OGM.
Authors
- Jun Huang (ORCID: https://orcid.org/0000-0002-6092-4366)
- Sanbo Qin (ORCID: https://orcid.org/0000-0002-9187-6547)
- Yanfei Zeng
- Xiaobao Wei (ORCID: https://orcid.org/0000-0001-8600-3963)
- Wendan Wang (ORCID: https://orcid.org/0000-0001-5659-0810)
- Rongni Chang
- Xiaoni Wei
- Jie Qin (ORCID: https://orcid.org/0000-0002-3801-8068)
- Yuanxiu Li
- Xiudan Zheng
- Dejian Yuan (ORCID: https://orcid.org/0000-0001-9884-2158)
Institutions
- Liuzhou Maternal and Child Health Hospital (CN)
- Liuzhou General Hospital (CN)
Publication Details
- Journal
- Molecular Cytogenetics
- Published
- 2025-12-19
- DOI
- https://doi.org/10.1186/s13039-025-00739-y
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Guangxi Province
- National Key Research and Development Program of China
- Guangxi Key Research and Development Program