ArticleJournal of the Association for Research in Otolaryngology : JARO2011
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
Article in Journal of the Association for Research in Otolaryngology : JARO, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 89 citations in OpenAlex.
- Otic organoids: A model to study spiral ganglion neuron characteristics in Tmprss3-deficiency.iScience · 2026Article
- Novel splice-site variants inFrontiers in genetics · 2026Article
- Retrocochlear Auditory Dysfunctions (RADs) and Their Treatment: A Narrative Review.Audiology research · 2025Review
- Endocochlear potential contributes to hair cell death in TMPRSS3 hearing loss.The Journal of clinical investigation · 2025Article
- Tmprss3 is expressed in several cell types of the inner ear including type II but hardly in type I spiral ganglion neurons.Frontiers in cellular neuroscience · 2025Article
- The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.Human genetics · 2024Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.Genetics and molecular biology · 2024Article
- Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study.Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale · 2023Article
- Rescue of auditory function by a single administration of AAV-TMPRSS3 gene therapy in aged mice of human recessive deafness DFNB8.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.Audiology & neuro-otology · 2023Review
- TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation.Journal of medical genetics · 2022Review
- Searching for the Molecular Basis of Partial Deafness.International journal of molecular sciences · 2022Article
- Molecular genetic landscape of hereditary hearing loss in Pakistan.Human genetics · 2022Review
- A frameshift mutation ofFrontiers in pediatrics · 2022Article
- Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth.Journal of pediatric genetics · 2021Article
- [The value of genetic diagnosis of deafness in evaluating the prognosis of cochlear implantation].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Article
- TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.Frontiers in genetics · 2021Article
- Auditory Neuropathy Spectrum Disorders: From Diagnosis to Treatment: Literature Review and Case Reports.Journal of clinical medicine · 2020Review
- Novel Mutations in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss.International journal of molecular sciences · 2020Article
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the present study, genotype-phenotype correlations in eight Dutch DFNB8/10 families with compound heterozygous mutations in TMPRSS3 were addressed. We compared the phenotypes of the families by focusing on the mutation data. The compound heterozygous variants in the TMPRSS3 gene in the present families included one novel variant, p.Val199Met, and four previously described pathogenic variants, p.Ala306Thr, p.Thr70fs, p.Ala138Glu, and p.Cys107Xfs. In addition, the p.Ala426Thr variant, which had previously been reported as a possible polymorphism, was found in one family. All affected family members reported progressive bilateral hearing impairment, with variable onset ages and progression rates. In general, the hearing impairment affected the high frequencies first, and sooner or later, depending on the mutation, the low frequencies started to deteriorate, which eventually resulted in a flat audiogram configuration. The ski-slope audiogram configuration is suggestive for the involvement of TMPRSS3. Our data suggest that not only the protein truncating mutation p.T70fs has a severe effect but also the amino acid substitutions p.Ala306Thr and p.Val199Met. A combination of two of these three mutations causes prelingual profound hearing impairment. However, in combination with the p.Ala426Thr or p.Ala138Glu mutations, a milder phenotype with postlingual onset of the hearing impairment is seen. Therefore, the latter mutations are likely to be less detrimental for protein function. Further studies are needed to distinguish possible phenotypic differences between different TMPRSS3 mutations. Evaluation of performance of patients with a cochlear implant indicated that this is a good treatment option for patients with TMPRSS3 mutations as satisfactory speech reception was reached after implantation.
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