A Novel Intronic Variant Causes Aberrant Splicing of <i>PCDH15</i> in a Family With Usher Syndrome Type <scp>1F</scp>
This study reports a novel pathogenic variant c.3717+5G>A of PCDH15 in a proband for the first time. These findings offer evidence for the genetic counseling of USH1F. Minigene splicing assays are considered to be one of the most powerful methods for determining whether intron mutations lead to abnormal splicing.
Authors
- Xueqin Xu (ORCID: https://orcid.org/0000-0002-5861-1301)
- QY Ma
- Chenyang Xu
- Yanbao Xiang
Institutions
- Wenzhou Central Hospital (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2026-01-01
- DOI
- https://doi.org/10.1002/mgg3.70189
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Science and Technology Program of Zhejiang Province