Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review
We confirm that the BSCL2 c.974dupG variant is a cause of PELD. Regression may occur later than previously reported. Literature review suggests that the c.974dupG variant may present a milder phenotype compared to the classic c.985C>T variant. Early genetic testing and diagnosis are crucial for improving outcomes in rare neurodegenerative disorders like PELD.
Authors
- Hua Li (ORCID: https://orcid.org/0000-0002-1882-090X)
- Fang Liu (ORCID: https://orcid.org/0000-0002-1711-6347)
- Peiqi Zhang (ORCID: https://orcid.org/0009-0001-7487-147X)
- Jing Guo (ORCID: https://orcid.org/0000-0002-5504-644X)
- Yao Wang
Institutions
- Guangdong Province Women and Children Hospital (CN)
- Guangdong 999 Brain Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-02-28
- DOI
- https://doi.org/10.3389/fgene.2025.1528563
- Citations
- 1
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.81