Compound heterozygous variants in <i>PCDH15</i> non-coding regions in an Usher Syndrome Type 1F patient: minigene assay reveals pathogenicity of c.3123-1G>C
Through clinical genetic screening of a family with USH, we identified two variants in the <i>PCDH15</i> gene. Minigene assay can be used for pathogenicity analysis of variants in long genes such as <i>PCDH15</i>. Our data suggest that <i>PCDH15</i> c.3123-1G>C is a pathogenic mutation for Usher Syndrome Type 1F (USH1F).
Authors
- Bo Lei (ORCID: https://orcid.org/0000-0002-5497-0905)
- Changgeng Liu (ORCID: https://orcid.org/0000-0002-4899-0985)
- Qianqian Guo (ORCID: https://orcid.org/0000-0001-8373-3530)
- Ya Li (ORCID: https://orcid.org/0000-0002-8253-4932)
- Jiale Wang (ORCID: https://orcid.org/0000-0001-8074-4138)
- Shun Yao
Institutions
- Henan Academy of Sciences (CN)
- Henan Provincial People's Hospital (CN)
- Zhengzhou People's Hospital (CN)
- Henan Provincial Eye Hospital (CN)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-10-23
- DOI
- https://doi.org/10.1080/13816810.2025.2576776
- Citations
- 1
- Primary Topic
- RNA Research and Splicing
- Type
- article
- Field-Weighted Citation Impact
- 0.81