ArticleHuman mutation2013
Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.
Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 22 citations in OpenAlex.
- Identification and Functional Characterization of a Novel POU3F4 Frameshift Mutation in a Chinese Family.Life (Basel, Switzerland) · 2026Article
- Impact of POU3F4 mutation on cochlear development and auditory function.Cell communication and signaling : CCS · 2025Article
- Single-Cell Landscape of the Cochlea Revealed Cell-Type-Specific Diversification inBiomolecules · 2025Article
- Review
- Spatially distinct otic mesenchyme cells show molecular and functional heterogeneity patterns before hearing onset.iScience · 2023Article
- Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.Biomedicines · 2023Review
- Considering gene therapy to protect from X-linked deafness DFNX2 and associated neurodevelopmental disorders.Ibrain · 2022Review
- Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack ofFrontiers in molecular neuroscience · 2022Article
- A New Pathogenic Variant inGenes · 2021Article
- Building inner ears: recent advances and future challenges for in vitro organoid systems.Cell death and differentiation · 2021Review
- Next-Generation Sequencing Identifies Pathogenic Variants inNeural plasticity · 2021Article
- AChinese medical journal · 2017Article
- Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.PloS one · 2016Article
- A novel mutation inJournal of otology · 2015Article
- De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.The Annals of otology, rhinology, and laryngology · 2015Article
- Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.BMC medical genetics · 2015Article
- Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.European journal of human genetics : EJHG · 2014Article
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Authors and funding
15 authors at 6 institutions in 3 countries.
Funding
Abstract
POU3F4 is a POU domain transcription factor that is required for hearing. In the ear, POU3F4 is essential for mesenchymal remodeling of the bony labyrinth and is the causative gene for DFNX2 human nonsyndromic deafness. Ear abnormalities underlie this form of deafness, characterized previously in multiple spontaneous, radiation-induced and transgenic mouse mutants. Here, we report three novel mutations in the POU3F4 gene that result in profound hearing loss in both humans and mice. A p.Gln79* mutation was identified in a child from an Israeli family, revealed by massively parallel sequencing (MPS). This strategy demonstrates the strength of MPS for diagnosis with only one affected individual. A second mutation, p.Ile285Argfs*43, was identified by Sanger sequencing. A p.Cys300* mutation was found in an ENU-induced mutant mouse, schwindel (sdl), by positional cloning. The mutation leads to a predicted truncated protein, similar to the human mutations, providing a relevant mouse model. The p.Ile285Argfs*43 and p.Cys300* mutations lead to a shift of Pou3f4 nuclear localization to the cytoplasm, demonstrated in cellular localization studies and in the inner ears of the mutant mice. The discovery of these mutations facilitates a deeper comprehension of the molecular basis of inner ear defects due to mutations in the POU3F4 transcription factor.
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