Two Nonsense <i>GLI3</i> Variants Are Identified in Two Chinese Families With Polydactyly
The mutations p. A1115Rfs*14 and p. Glu1478Ter in GLI3 may account for sub-PHS and PAP in the two patients, respectively. This finding expands the mutation and phenotype spectrum associated with GLI3, providing valuable insights for the clinical diagnosis of polysyndactyly.
Authors
- Baoqiang Chong
- Xiaxia Liu
- Xiangyu Zhao (ORCID: https://orcid.org/0000-0001-8621-9377)
- Kai Liu (ORCID: https://orcid.org/0000-0002-8014-2310)
- Shuqi Zheng
- Liangqian Jiang (ORCID: https://orcid.org/0000-0002-1193-957X)
- Juan Teng
- Yijun Qi (ORCID: https://orcid.org/0000-0003-0239-5862)
- Yuda Wei
- Lin Li (ORCID: https://orcid.org/0000-0001-6613-1618)
Institutions
- Linyi University (CN)
- Linyi People's Hospital (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1002/mgg3.70088
- Citations
- 1
- Primary Topic
- Hedgehog Signaling Pathway Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Natural Science Foundation of Shandong Province
- Key Technology Research and Development Program of Shandong