Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
We identified and reported a pair of twins suffering from syndromic neurodevelopmental disorders caused by a novel splicing variant of SMARCC2. Our findings further reinforce the notion that individuals harboring missense/in-frame variants in SMARCC2 are prone to experiencing more severe neurological phenotypes.
Authors
- Yiyao Chen (ORCID: https://orcid.org/0000-0003-4319-9403)
- Hongjun Fei (ORCID: https://orcid.org/0000-0002-7028-5457)
- Renyi Hua (ORCID: https://orcid.org/0000-0002-6556-737X)
- Jinyu Liu (ORCID: https://orcid.org/0000-0002-1000-9434)
- Yanlin Wang (ORCID: https://orcid.org/0000-0002-6908-1529)
- Jian Wang (ORCID: https://orcid.org/0009-0003-6627-6202)
- Minghui Li (ORCID: https://orcid.org/0000-0003-4643-2303)
- Jingqi Lin
- Shuyuan Li (ORCID: https://orcid.org/0000-0001-7428-3988)
- Niu Li (ORCID: https://orcid.org/0000-0002-9583-3173)
- Xu Han (ORCID: https://orcid.org/0000-0003-0068-0117)
Institutions
- Shanghai International Studies University (CN)
- Shanghai Medical College of Fudan University (CN)
- Shanghai Jiao Tong University (CN)
- Renji Hospital (CN)
- International Peace Maternity & Child Health Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-02-03
- DOI
- https://doi.org/10.1186/s13023-024-03510-5
- Primary Topic
- Chromatin Remodeling and Cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Science and Technology Commission of Shanghai Municipality
- National Key Research and Development Program of China