ReviewHuman genetics2022
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.
Review in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- Task force Guideline of Brazilian Society of Otology ‒ hearing loss in children - Part I ‒ Evaluation.Brazilian journal of otorhinolaryngologyGuideline
- Efficient Endolymphatic Sac-Directed Gene Delivery Using AAV8BP2 and Posterior Semicircular Canal Injection.International journal of molecular sciences · 2026Article
- The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.Journal of biomedical science · 2026Article
- Epithelial plasma membrane transporters as drug targets.Physiological reviews · 2026Review
- A UniqueInternational journal of molecular sciences · 2026Article
- Gene Editing Technologies for Hereditary Hearing Loss: Prospects and Challenges.Neuroscience bulletin · 2026Review
- Genetic and Environmental Factors Shaping Hearing Loss: Xenobiotics, Mechanisms and Translational Perspectives.Journal of xenobiotics · 2026Review
- Comparison of One-Year auditory rehabilitation outcomes by etiology in pediatric patients with bilateral severe hearing loss (70-90 dB): enlarged vestibular aqueduct vs. Other causes.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Article
- Pediatric hearing loss in the universal newborn hearing screening era: etiologies, risk indicators, and clinical phenotypes.Frontiers in public health · 2026Review
- Multitarget protection by Chinese herbal medicines against sensorineural hearing loss: a focus on oxidative stress, apoptosis, and inflammation.Frontiers in medicine · 2026Review
- Developmental Expression of Membrane Pumps and Ion Channels in Human Vestibular Endolymph Homeostasis.Developmental neurobiology · 2026Article
- Effects of different morphological types of enlarged vestibular aqueduct on clinical onset and cochlear implantation.Frontiers in medicine · 2026Article
- Review
- Integrating whole-genome resequencing data reveals adaptive selection signatures in sheep populations under extreme environments.BMC genomics · 2025Article
- Assessing the Functional Significance of Novel and Rare Variants of theInternational journal of molecular sciences · 2025Article
- [Expert consensus on prognostic evaluation of cochlear implantation in hereditary hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- [Prediction of hearing change in children with enlarged vestibular aqueduct with different genotypes by linear mixed-effects model].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Whole Exome Sequencing Identifies Novel Splicing Variants in the PTPRQ Gene and Their Mechanisms in Autosomal Recessive Non-Syndromic Hearing Loss.Journal of otology · 2025Article
- Clinical application of preimplantation genetic testing based on low-coverage next-generation sequencing with linkage analyses in hereditary hearing loss families.Journal of assisted reproduction and genetics · 2025Article
- Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.Molecular medicine (Cambridge, Mass.) · 2025Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a transmembrane exchanger of anions and bases. The mutant SLC26A4 phenotype is characterized by inner ear malformations, including an enlarged vestibular aqueduct (EVA), incomplete cochlear partition type II and modiolar hypoplasia, progressive and fluctuating hearing loss, and vestibular dysfunction. A thyroid iodine organification defect can lead to multinodular goiter and distinguishes Pendred syndrome from DFNB4. Pendred syndrome and DFNB4 are each inherited as an autosomal recessive trait caused by biallelic mutations of SLC26A4 (M2). However, there are some EVA patients with only one detectable mutant allele (M1) of SLC26A4. In most European-Caucasian M1 patients, there is a haplotype that consists of 12 variants upstream of SLC26A4, called CEVA (Caucasian EVA), which acts as a pathogenic recessive allele in trans to mutations affecting the coding regions or splice sites of SLC26A4. This combination of an M1 genotype with the CEVA haplotype is associated with a less severe phenotype than the M2 genotype. The phenotype in EVA patients with no mutant alleles of SLC26A4 (M0) has a very low recurrence probability and is likely to be caused by other factors.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.