Identification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa
Our study identified two novel ABCA4 variants, expanding the mutational spectrum of the ABCA4 gene in Stargardt disease and retinitis pigmentosa while providing new insights into the molecular pathology of ABCA4 splicing defects.
Authors
- Liangwei Mao (ORCID: https://orcid.org/0000-0002-4325-4962)
- Qiquan Luo (ORCID: https://orcid.org/0000-0003-1450-2856)
- Dujun Li
- Lu Shi (ORCID: https://orcid.org/0000-0002-2114-6389)
- Kuang‐Chong Wu (ORCID: https://orcid.org/0000-0001-8218-1869)
- Guanghong Zhang (ORCID: https://orcid.org/0000-0003-1638-0629)
- Linping Xue
- Jihong Luo (ORCID: https://orcid.org/0000-0001-7734-3448)
- Xiaoyu Li (ORCID: https://orcid.org/0000-0001-5619-9838)
- Juan Huang (ORCID: https://orcid.org/0000-0001-5657-1257)
- Lei Yang (ORCID: https://orcid.org/0000-0002-2882-5560)
Institutions
- Huazhong Agricultural University (CN)
- Hubei University of Chinese Medicine (CN)
- Hubei Provincial Hospital of Traditional Chinese Medicine (CN)
- Wuhan College (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-06-18
- DOI
- https://doi.org/10.3389/fgene.2025.1516872
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Hubei Provincial Department of Education
- Wuhan University
- Wuhan Municipal Science and Technology Bureau