Identification of a novel intronic variant in COL4A2 gene associated with fetal severe cerebral encephalomalacia and subdural hemorrhage
Our study demonstrated that c.549 + 5G > A in COL4A2 gene is a disease-causing variant by aberrant splicing. This finding enriches the variant spectrum of COL4A2 gene, which not only improves the understanding of the fetal neurological disorders associated with hypoxic-ischemic and hemorrhagic lesions from a clinical perspective but also provides guidance on genetic diagnosis and counseling.
Authors
- Rongyue Sun
- Chaosheng Lu (ORCID: https://orcid.org/0000-0003-2270-0326)
- Qingqing Huang (ORCID: https://orcid.org/0000-0001-7080-7588)
- Jingye Pan (ORCID: https://orcid.org/0000-0002-2367-1275)
- Junhui Sun (ORCID: https://orcid.org/0000-0002-9296-0732)
- Ting Zhu (ORCID: https://orcid.org/0000-0001-6266-7511)
- Dan Wang (ORCID: https://orcid.org/0000-0002-9754-886X)
- Sisi Hu (ORCID: https://orcid.org/0009-0000-8301-7753)
- Hongwei Wang (ORCID: https://orcid.org/0009-0002-8883-6955)
- Yue Xu
- Mian-Mian Zhu
- Hua-Zhi Xu
- Yan-Zhao Luo
- Yu-Jing Gong
Institutions
- Wenzhou Medical University (CN)
- First Affiliated Hospital of Wenzhou Medical University (CN)
- Zhejiang Hospital (CN)
- Lishui City People's Hospital (CN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-09-30
- DOI
- https://doi.org/10.1186/s12920-024-02012-4
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Medical Science and Technology Project of Zhejiang Province
- Science and Technology Program of Zhejiang Province