ArticlePloS one2014
Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 31 citations in OpenAlex.
- A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4.Medicine · 2020Trial
- Advances and prospects of 3D air-liquid interface cultured middle ear epithelial cells and inner ear organoids in otologic diseases.Frontiers in bioengineering and biotechnology · 2026Review
- Predominance of Auditory But Not Vestibular Deficits in a Mouse Model of Congenital Cytomegalovirus Infection.Clinical and experimental otorhinolaryngology · 2025Article
- AAV-mediated Gene Therapy for Hereditary Deafness: Progress and Perspectives.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Review
- Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.Computational and structural biotechnology journal · 2023Article
- Modelling inner ear development and disease using pluripotent stem cells - a pathway to new therapeutic strategies.Disease models & mechanisms · 2022Review
- Induced Pluripotent Stem Cells, a Stepping Stone to In Vitro Human Models of Hearing Loss.Cells · 2022Review
- Molecular Features of SLC26A4 Common Variant p.L117F.Journal of clinical medicine · 2022Article
- Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts.BMC medical genomics · 2022Article
- Deafness-in-a-dish: modeling hereditary deafness with inner ear organoids.Human genetics · 2022Review
- Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.Human genetics · 2022Review
- Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene.Scientific reports · 2021Article
- Toward the Pathogenicity of theInternational journal of molecular sciences · 2021Article
- Congenital Deafness and Recent Advances Towards Restoring Hearing Loss.Current protocols · 2021Article
- Advances in genome editing for genetic hearing loss.Advanced drug delivery reviews · 2021Review
- Efficient in Utero Gene Transfer to the Mammalian Inner Ears by the Synthetic Adeno-Associated Viral Vector Anc80L65.Molecular therapy. Methods & clinical development · 2020Article
- DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model.Molecular therapy. Methods & clinical development · 2020Article
- Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants.Human mutation · 2020Article
- Advantages of a miniature pig model in research on human hereditary hearing loss.Journal of otology · 2015Article
- KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.PloS one · 2014Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the SLC26A4 gene are a common cause of human hereditary hearing impairment worldwide. Previous studies have demonstrated that different SLC26A4 mutations have different pathogenetic mechanisms. By using a genotype-driven approach, we established a knock-in mouse model (i.e., Slc26a4(tm2Dontuh/tm2Dontuh) mice) homozygous for the common p.H723R mutation in the East Asian population. To verify the pathogenicity of the p.H723R allele in mice, we further generated mice with compound heterozygous mutations (i.e., Slc26a4(tm1Dontuh/tm2Dontuh) ) by intercrossing Slc26a4(+/tm2Dontuh) mice with Slc26a4(tm1Dontuh/tm1Dontuh) mice, which segregated the c.919-2A>G mutation with an abolished Slc26a4 function. Mice were then subjected to audiologic assessments, a battery of vestibular evaluations, inner ear morphological studies, and noise exposure experiments. The results were unexpected; both Slc26a4(tm2Dontuh/tm2Dontuh) and Slc26a4(tm1Dontuh/tm2Dontuh) mice showed normal audiovestibular phenotypes and inner ear morphology, and they did not show significantly higher shifts in hearing thresholds after noise exposure than the wild-type mice. The results indicated not only the p.H723R allele was non-pathogenic in mice, but also a single p.H723R allele was sufficient to maintain normal inner ear physiology in heterozygous compound mice. There might be discrepancies in the pathogenicity of specific SLC26A4 mutations in humans and mice; therefore, precautions should be taken when extrapolating the results of animal studies to humans.
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