ArticleJournal of medical genetics2007
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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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.
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Who cites it
26 citing papers in PubMed, 59 citations in OpenAlex.
- Metabonomics and Transcriptomics Analyses Reveal the Development Process of the Auditory System in the Embryonic Development Period of the Small Yellow Croaker under Background Noise.International journal of molecular sciences · 2024Article
- Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.Genome medicine · 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
- Variant analysis of 92 Chinese Han families with hearing loss.BMC medical genomics · 2022Article
- A frameshift mutation ofFrontiers in pediatrics · 2022Article
- [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
- Cochlear Implantation From the Perspective of Genetic Background.Anatomical record (Hoboken, N.J. : 2007) · 2020Review
- Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities.Frontiers in genetics · 2020Review
- Identification ofNeural plasticity · 2017Article
- Novel Mutations and Mutation Combinations ofBioMed research international · 2017Article
- A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2016Article
- Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.BMC medical genetics · 2015Article
- Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.Journal of translational medicine · 2015Article
- Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.Medicine · 2015Article
- A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.Journal of molecular medicine (Berlin, Germany) · 2014Article
- Article
- Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.PloS one · 2014Article
- The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.Biochemical genetics · 2013Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the transmembrane protease, serine 3 (TMPRSS3) gene, encoding a transmembrane serine protease, cause autosomal recessive deafness childhood (DFNB8) or congenital onset (DFNB10). TMPRSS3 mutations have been mainly identified in patients from Asian and Mediterranean countries and seem to be a rare finding in the Northern European population so far. The identification of two novel pathogenic TMPRSS3 mutations (c.646C-->T - R216C; c.916G-->A - A306T) is described in four affected siblings of German origin with postlingual hearing loss, treated by bilateral cochlear implantation with good results. Although TMPRSS3 mutations are supposed to be a rare cause of autosomal recessive hearing loss, in families with postlingual disease onset TMPRSS3 is the most favourable candidate gene after exclusion of GJB2 mutations.
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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.