Journal article
Identification of a novel isoform of Slc26a4 by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea
Human genetics, Vol.145(1), 62
07/16/2026
DOI: 10.1007/s00439-026-02858-x
PMID: 42461329
Abstract
Pathogenic variation of SLC26A4 gene causes both Pendred syndrome (PDS) and non-syndromic enlarged vestibular aqueduct (NSEVA/DFNB4), two autosomal recessive disorders. The former accounts for approximately 6% of human genetic hearing loss, making it the second most common form of syndromic deafness after Usher syndrome, while the latter is the most common radiological malformation associated with childhood sensorineural hearing loss (SNHL). Here, we used short- and long-read single-cell RNA sequencing (scRNA-seq) of pendrin-expressing cells in the murine cochlea to identify a novel short isoform of Slc26a4. We demonstrate that the short Slc26a4 isoform is expressed in both the inner ear and kidney and investigate its interactions and functions. We also characterize the genotype-phenotype association for SLC26A4-related hearing loss in the context of these two isoforms. These results provide a new reference for molecular profiling of pendrin and offer novel insights into cell-type-specific splicing events and SLC26A4-related hearing loss.
Details
- Title: Subtitle
- Identification of a novel isoform of Slc26a4 by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea
- Creators
- Jin-Young Koh - University of IowaCorentin Affortit - University of IowaKazuaki Homma - Northwestern UniversitySatoe Takahashi - Northwestern UniversityJonathan M Nizar - University of IowaPaul T Ranum - University of IowaRose Gogal - University of IowaEun-Mi Kim - Seoul Women's UniversityMinkyung Kang - SillaJen (South Korea)Diana L Kolbe - University of IowaFengxiao Bu - University of IowaCody West - University of IowaDonghong Wang - University of IowaAmanda Odell - University of IowaAmy Weaver - University of IowaJori Hendon - University of Iowa, OtolaryngologyWilliam D Walls - University of IowaMichael J Schnieders - University of IowaRichard J H Smith - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Human genetics, Vol.145(1), 62
- DOI
- 10.1007/s00439-026-02858-x
- PMID
- 42461329
- ISSN
- 0340-6717
- eISSN
- 1432-1203
- Publisher
- Springer Nature
- Grant note
- DC017482 / NCATS NIH HHS DC017955, DC002842, DC012049 / NIH HHS
- Language
- English
- Date published
- 07/16/2026
- Academic Unit
- Iowa Technology Institute; Biochemistry and Molecular Biology; Chemical and Biochemical Engineering; Otolaryngology; Iowa Institute of Human Genetics; Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Center for Biocatalysis and Bioprocessing; Nephrology; Internal Medicine
- Record Identifier
- 9985182390902771
Metrics
1 Record Views