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Experimental and Therapeutic Medicine
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Print ISSN: 1792-0981 Online ISSN: 1792-1015
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April-2026 Volume 31 Issue 4

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Identification of a novel PLS1 heterozygous variant causing autosomal dominant non‑syndromic hearing loss

  • Authors:
    • Chenxi Yang
    • Yao Xiong
    • Dongyang Wang
    • Juanzi Shi

  • View Affiliations / Copyright

    Affiliations: Assisted Reproduction Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi 710000, P.R. China, Translational Medicine Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi 710000, P.R. China
    Copyright: © Yang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 110
    |
    Published online on: February 12, 2026
       https://doi.org/10.3892/etm.2026.13105
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Abstract

Congenital disabling hearing impairment is a prevalent sensory deficit, affecting >30,000 newborns annually in China. Non‑syndromic hearing loss (NSHL) accounts for a notable proportion of these cases, ~60% of which are attributed to genetic defects by heterogeneity. Although >120 genes have been linked to NSHL, a definitive molecular diagnosis remains elusive for approximately one‑half of the individuals undergoing genetic testing. In the present study, a Chinese family with NSHL was investigated using next‑generation sequencing of the affected members, with validation by Sanger sequencing. A novel variant was identified, namely plastin‑1 (PLS1) c.981+5G>A. Functional analysis by reverse transcription PCR revealed that this variant induces exon skipping, establishing its pathogenic mechanism. PLS1 encodes the actin‑bundling protein plastin‑1, which is highly abundant in the stereocilia of hair cells. Recent studies have implicated PLS1 in hearing loss; therefore, the present study provides direct functional validation of its pathogenicity, expanding the pathogenic variation spectrum of PLS1 and offering valuable insights into clinical diagnostic advancements and prenatal screening.

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Copy and paste a formatted citation
Spandidos Publications style
Yang C, Xiong Y, Wang D and Shi J: <p>Identification of a novel <em>PLS1</em> heterozygous variant causing autosomal dominant non‑syndromic hearing loss</p>. Exp Ther Med 31: 110, 2026.
APA
Yang, C., Xiong, Y., Wang, D., & Shi, J. (2026). <p>Identification of a novel <em>PLS1</em> heterozygous variant causing autosomal dominant non‑syndromic hearing loss</p>. Experimental and Therapeutic Medicine, 31, 110. https://doi.org/10.3892/etm.2026.13105
MLA
Yang, C., Xiong, Y., Wang, D., Shi, J."<p>Identification of a novel <em>PLS1</em> heterozygous variant causing autosomal dominant non‑syndromic hearing loss</p>". Experimental and Therapeutic Medicine 31.4 (2026): 110.
Chicago
Yang, C., Xiong, Y., Wang, D., Shi, J."<p>Identification of a novel <em>PLS1</em> heterozygous variant causing autosomal dominant non‑syndromic hearing loss</p>". Experimental and Therapeutic Medicine 31, no. 4 (2026): 110. https://doi.org/10.3892/etm.2026.13105
Copy and paste a formatted citation
x
Spandidos Publications style
Yang C, Xiong Y, Wang D and Shi J: <p>Identification of a novel <em>PLS1</em> heterozygous variant causing autosomal dominant non‑syndromic hearing loss</p>. Exp Ther Med 31: 110, 2026.
APA
Yang, C., Xiong, Y., Wang, D., & Shi, J. (2026). <p>Identification of a novel <em>PLS1</em> heterozygous variant causing autosomal dominant non‑syndromic hearing loss</p>. Experimental and Therapeutic Medicine, 31, 110. https://doi.org/10.3892/etm.2026.13105
MLA
Yang, C., Xiong, Y., Wang, D., Shi, J."<p>Identification of a novel <em>PLS1</em> heterozygous variant causing autosomal dominant non‑syndromic hearing loss</p>". Experimental and Therapeutic Medicine 31.4 (2026): 110.
Chicago
Yang, C., Xiong, Y., Wang, D., Shi, J."<p>Identification of a novel <em>PLS1</em> heterozygous variant causing autosomal dominant non‑syndromic hearing loss</p>". Experimental and Therapeutic Medicine 31, no. 4 (2026): 110. https://doi.org/10.3892/etm.2026.13105
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