A novel variant in the 3′ UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report
The study identified and demonstrated the pathogenicity of a novel 3'UTR site TCF4 variant for the first time. This research enhances understanding of pathogenetic mechanisms of PTHS and aids genetic counseling and diagnosis.
Authors
- Guangjun Yu (ORCID: https://orcid.org/0000-0002-7179-0789)
- Jincai Feng
- Yongyong Ren (ORCID: https://orcid.org/0000-0001-9217-3483)
- Yu Wang (ORCID: https://orcid.org/0000-0003-2265-3742)
- Hui Juan Lu (ORCID: https://orcid.org/0000-0001-8347-0830)
- Fan Yang (ORCID: https://orcid.org/0000-0001-6306-4501)
- Tingting Zhao (ORCID: https://orcid.org/0000-0002-2069-5538)
- Bingbing Zhang (ORCID: https://orcid.org/0000-0001-9811-6770)
- Jiuzhou Yuan
Institutions
- Shanghai Jiao Tong University (CN)
- Kunming Medical University (CN)
- Shanghai Children's Medical Center (CN)
- Shanghai Children's Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-10-07
- DOI
- https://doi.org/10.1186/s13023-024-03383-8
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00